Search

Your search keyword '"Balikova, Irina"' showing total 166 results
Start Over Author "Balikova, Irina"
166 results on '"Balikova, Irina"'

1. The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.

Author

Almoallem, Basamat, Arno, Gavin, De Zaeytijd, Julie, Verdin, Hannah, Balikova, Irina, Casteels, Ingele, de Ravel, Thomy, Hull, Sarah, Suzani, Martina, Destrée, Anne, Peng, Michelle, Williams, Denise, Ainsworth, John R, Webster, Andrew R, Leroy, Bart P, Moore, Anthony T, and De Baere, Elfride

Subjects
Humans, Microphthalmos, Membrane Proteins, Cohort Studies, Family, Heterozygote, Mutation, Alleles, Adolescent, Adult, Aged, Middle Aged, Child, Child, Preschool, Female, Male, DNA Copy Number Variations, Serine Proteases, Whole Genome Sequencing
Abstract

This study aimed to genetically and clinically characterize a unique cohort of 25 individuals from 21 unrelated families with autosomal recessive nanophthalmos (NNO) and posterior microphthalmia (MCOP) from different ethnicities. An ophthalmological assessment in all families was followed by targeted MFRP and PRSS56 testing in 20 families and whole-genome sequencing in one family. Three families underwent homozygosity mapping using SNP arrays. Eight distinct MFRP mutations were found in 10/21 families (47.6%), five of which are novel including a deletion spanning the 5' untranslated region and the first coding part of exon 1. Most cases harbored homozygous mutations (8/10), while a compound heterozygous and a monoallelic genotype were identified in the remaining ones (2/10). Six distinct PRSS56 mutations were found in 9/21 (42.9%) families, three of which are novel. Similarly, homozygous mutations were found in all but one, leaving 2/21 families (9.5%) without a molecular diagnosis. Clinically, all patients had reduced visual acuity, hyperopia, short axial length and crowded optic discs. Retinitis pigmentosa was observed in 5/10 (50%) of the MFRP group, papillomacular folds in 12/19 (63.2%) of MCOP and in 3/6 (50%) of NNO cases. A considerable phenotypic variability was observed, with no clear genotype-phenotype correlations. Overall, our study represents the largest NNO and MCOP cohort reported to date and provides a genetic diagnosis in 19/21 families (90.5%), including the first MFRP genomic rearrangement, offering opportunities for gene-based therapies in MFRP-associated disease. Finally, our study underscores the importance of sequence and copy number analysis of the MFRP and PRSS56 genes in MCOP and NNO.

Published
2020

3. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial

Author

Volpe, Joseph J, Posner, John, Kellner, Ulrich, Quinlivan, Rosaline, Gerber, Marianne, Khwaja, Omar, Scalco, Renata S, Seabrook, Timothy, Koch, Armin, Balikova, Irina, Joniau, Inge, Accou, Geraldine, Tahon, Valentine, Wittevrongel, Sylvia, De Vos, Elke, de Holanda Mendonça, Rodrigo, Matsui Jr, Ciro, Fornazieri Darcie, Ana Letícia, Machado, Cleide, Kiyoko Oyamada, Maria, Martini, Joyce, Polido, Graziela, Rodrigues Iannicelli, Juliana, Caires de Oliveira Achili Ferreira, Juliana, Hu, Chaoping, Zhu, Xiaomei, Qian, Chen, Shen, Li, Li, Hui, Shi, Yiyun, Zhou, Shuizhen, Xiao, Ying, Zhou, Zhenxuan, Wang, Sujuan, Sang, Tian, Wei, Cuijie, Dong, Hui, Cao, Yiwen, Wen, Jing, Li, Wenzhu, Qin, Lun, Barisic, Nina, Celovec, Ivan, Galiot Delic, Martina, Ivkic, Petra Kristina, Vukojevic, Nenad, Kern, Ivana, Najdanovic, Boris, Skugor, Marin, Tomas, Josipa, Boespflug-Tanguy, Odile, De Lucia, Silvana, Seferian, Andrea, Barreau, Emmanuel, Mnafek, Nabila, Peche, Helene, Grange, Allison, Trang Nguyen, Diem, Milascevic, Darko, Tachibana, Shotaro, Pagliano, Emanuela, Bianchi Marzoli, Stefania, Santarsiero, Diletta, Garcia Sierra, Myriam, Tremolada, Gemma, Arnoldi, Maria Teresa, Vigano, Marta, Dosi, Claudia, Zanin, Riccardo, Schembri, Veronica, Brolatti, Noemi, Rao, Giuseppe, Tassara, Elisa, Morando, Simone, Tacchetti, Paola, Pedemonte, Marina, Priolo, Enrico, Sposetti, Lorenza, Comi, Giacomo Pietro, Govoni, Alessandra, Osnaghi, Silvia Gabriella, Minorini, Valeria, Abbati, Francesca, Fassini, Federica, Foa, Michaela, Lopopolo, Amalia, Pane, Marika, Palermo, Concetta, Pera, Maria Carmela, Amorelli, Giulia Maria, Barresi, Costanza, D'Amico, Guglielmo, Orazi, Lorenzo, Coratti, Giorgia, Leone, Daniela, Laura, Antonaci, De Sanctis, Roberto, Berti, Beatrice, Kimura, Naoki, Takeshima, Yasuhiro, Shimomura, Hideki, Lee, Tomoko, Gomi, Fumi, Morimatsu, Takanobu, Furukawa, Toru, Stodolska-Koberda, Urszula, Waskowska, Agnieszka, Kolendo, Jagoda, Sobierajska-Rek, Agnieszka, Modrzejewska, Sandra, Lemska, Anna, Melnik, Evgenia, Artemyeva, Svetlana, Leppenen, Natalya, Yupatova, Nataliya, Monakhova, Anastasya, Papina, Yulia, Shidlovsckaia, Olga, Litvinova, Elena, Enzmann, Cornelia, Galiart, Elea, Gugleta, Konstantin, Wondrusch Haschke, Christine, Topaloglu, Haluk, Oncel, Ibrahim, Ertugrul, Nesibe Eroglu, Konuskan, Bahadir, Eldem, Bora, Kadayifçilar, Sibel, Alemdaroglu, Ipek, Sari, Seher, Bilgin, Neslihan, Karaduman, Aynur Ayse, Sarikaya, Fatma Gokcem Yildiz, Graham, Robert J, Ghosh, Partha, Casavant, David, Levine, Alexis, Titus, Rachael, Engelbrekt, Amanda, Ambrosio, Lucia, Fulton, Anne, Baglieri, Anna Maria, Dias, Courtney, Maczek, Elizabeth, Pasternak, Amy, Beres, Shannon, Duong, Tina, Gee, Richard, Young, Sally, Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Rose, Kristy, Servais, Laurent, Xiong, Hui, Zanoteli, Edmar, Baranello, Giovanni, Bruno, Claudio, Day, John W, Deconinck, Nicolas, Klein, Andrea, Mercuri, Eugenio, Vlodavets, Dmitry, Wang, Yi, Dodman, Angela, El-Khairi, Muna, Gorni, Ksenija, Jaber, Birgit, Kletzl, Heidemarie, Gaki, Eleni, Fontoura, Paulo, and Darras, Basil T

Published
2022
Full Text
View/download PDF

4. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial

Author

Volpe, Joseph J., Posner, John, Kellner, Ulrich, Quinlivan, Rosaline, Daron, Aurore, Delstanche, Stéphanie, Bruninx, Romain, Dal Farra, Fabian, Schneider, Olivier, Deconinck, Nicolas, Balikova, Irina, Delbeke, Patricia, Joniau, Inge, Tahon, Valentine, Wittevrongel, Sylvia, De Vos, Elke, Goemans, Nathalie, Casteels, Ingele, De Waele, Liesbeth, Cassiman, Catherine, Prové, Lies, Kinoo, David, Vancampenhout, Lisa, Van Den Hauwe, Marleen, Van Impe, Annelies, Prufer de Queiroz Campos Araujo, Alexandra, Chacon Pereira, Aline, Nardes, Flávia, Haefeli, Lorena, Rossetto, Julia, Ferreira Rebel, Marcos, Almeida Pereira, Jaqueline, Campbell, Craig, Sharan, Sapna, McDonald, Wendy, Scholtes, Cheryl, Mah, Jean, Sframeli, Maria, Chiu, Angela, Hagel, Jane, Oskoui, Maryam, Beneish, Raquel, Cariou-Palmer, Gaela, Pham, Connie, Toffoli, Daniela, Arpin, Stephanie, Turgeon Desilets, Sarah, Wang, Yi, Hu, Chaoping, Huan, Jianfeng, Qian, Chen, Shen, Li, Xiao, Ying, Zhou, Zhenxuan, Li, Hui, Wang, Sujuan, Xiong, Hui, Chang, Xingzhi, Dong, Hui, Liu, Ying, Sang, Tian, Wei, Cuijie, Wen, Jing, Cao, Yiwen, Ly, Xingyao, Zhao, Jingjing, Li, Wenzhu, Qin, Lun, Barisic, Nina, Galiot Delic, Martina, Ivkic, Petra Kristina, Vukojevic, Nenad, Kern, Ivana, Najdanovic, Boris, Skugor, Marin, Servais, Laurent, Boespflug-Tanguy, Odile, Gidaro, Teresa, Seferian, Andreea, De Lucia, Silvana, Barreau, Emmanuel, Mnafek, Nabila, Momtchilova, Marta Milkova, Peche, Helene, Valherie, Carole, Grange, Allison, Lilien, Charlotte, Milascevic, Darko, Tachibana, Shotaro, Ravelli, Claudia, Cardas, Ruxandra, Taytard, Jessica, Aubertin, Guillaume, Vanden Brande, Laure, Davion, Jean-Baptiste, Coopman, Stephanie, Bouacha, Ikram, Debruyne, Philippe, Defoort, Sabine, Derlyn, Gilles, Leroy, Florian, Danjoux, Loïc, Guilbaud, Julie, Desguerre, Isabelle, Barnérias, Christine, Semeraro, Michaela, Bremond-Gignac, Dominique, Bruere, Lenaic, Rateaux, Maxence, Deladrière, Élodie, Germa, Virginie, Pereon, Yann, Mercie, Sandra, Billaud, Fanny, Le Goff, Lucie, Letellier, Guy, Vuillerot, Carole, Portefaix, Aurélie, De-Montferrand, Camille, Le-Goff, Laure, Fontaine, Stephanie, Saidi, Manel, Bouzid, Nabil, Barriere, Aurélie, Tinat, Marie, Kirschner, Janbernd, Dreesbach, Michelle, Lagréze, Wolf, Michaelis, Bettina, Molnar, Fanni, Seger, Dorina, Vogt, Sibylle, Bertini, Enrico, D'Amico, Adele, Petroni, Sergio, Bonetti, Anna Maria, Carlesi, Adelina, Mizzoni, Irene, Bruno, Claudio, Priolo, Enrico, Rao, Giuseppe, Morando, Simone, Tacchetti, Paola, Zuffi, Ambra, Comi, Giacomo Pietro, Brusa, Roberta, Corti, Stefania, Daniele, Velardo, Govoni, Alessandra, Magri, Francesca, Minorini, Valeria, Osnaghi, Silvia Gabriella, Abbati, Francesca, Fassini, Federica, Foa, Michaela, Lopopolo, Amaqlia, Meneri, Megi, Zoppas, Francesca, Parente, Valeria, Baranello, Giovanni, Masson, Riccardo, Bianchi Marzoli, Stefania, Santarsiero, Diletta, Garcia Sierra, Myriam, Tremolada, Gemma, Arnoldi, Maria Teresa, Vigano, Marta, Zanin, Riccardo, Mercuri, Eugenio, Antonaci, Laura, de Sanctis, Roberto, Pane, Marika, Pera, Maria Carmela, Amorelli, Giulia Maria, Barresi, Costanza, D'Amico, Gugliemo, Orazi, Lorenzo, Coratti, Giorgia, Haginoya, Kazuhiro, Kato, Atsuko, Morishita, Yuko, Kira, Ryutaro, Akiyama, Kiyomu, Goto, Miwako, Mori, Yujiro, Okamoto, Misato, Tsutsui, Saki, Takatsuji, Yuta, Tanaka, Aya, Komaki, Hirofumi, Omori, Miina, Suzuki, Ippei, Takeuchi, Mizuki, Todoroki, Daisuke, Watanabe, Seji, Matsubayashi, Tomoko, Inakazu, Emi, Nagura, Hiroe, Suzuki, Akira, Usui, Manami, Ishikawa, Nobutsune, Harada, Yousuke, Fudeyasu, Kenishi, Hirata, Kazuhiko, Michiue, Kana, Ueda, Kazuyuki, Saito, Kayoko, Fujitani, Junko, Arakawa, Reiko, Takano, Kozue, Yashiro, Shigeko, Seki, Maiko, Sano, Nozomi, Fukuyama, Koji, Matsumoto, Yuki, Miyazaki, Hirofumi, Shibata, Minoru, Kobayashi, Kyoko, Nakamura, Yukie, Takeshima, Yasuhiro, Kuma, Moe, Kostera-Pruszczyk, Anna, Fraczek, Anna, Jedrzejowska, Maria, Lusakowska, Anna, Czeszyk-Piotrowicz, Agnieszka, Hautz, Wojciech, Rakusiewicz, Klaudia, Burlewicz, Malgorzata, Gierlak-Wojcicka, Zuzanna, Kepa, Malwina, Sikorski, Adam, Sobieraj, Marcin, Mazurkiewicz-Beldzinska, Maria, Lemska, Anna, Modrzejewska, Sandra, Koberda, Mateusz, Stodolska-Koberda, Urszula, Waskowska, Agnieszka, Kolendo, Jagoda, Sobierajska-Rek, Agnieszka, Steinborn, Barbara, Dalz, Magdalena, Grabowska, Julia, Hajduk, Wojciech, Janasiewicz-Karachitos, Justyna, Klimas, Monika, Stopa, Marcin, Gajewska, Ewa, Pusz, Beata, Vlodavets, Dmitry, Melnik, Evgenia, Leppenen, Natalya, Yupatova, Nataliya, Monakhova, Anastasya, Papina, Yulia, Shidlovsckaia, Olga, Milic Rasic, Vedrana, Brankovic, Vesna, Kosac, Ana, Djokic, Olivera, Jakšic, Vesna, Pepic, Ana, Martinovic, Jelena, Munell Casadesus, Francina, Tizzano, Eduardo, Martín Begué, Nieves, Wolley Dod, Charlotte, Subira, Olaia, Planas Pascual, Bernat, Toro Tamargo, Esther, Madruga Garrido, Marcos, Medina Romero, José David, Salinas, Marta Peña, Nascimento Osorio, Andrés, Díaz Cortés, Ana, Jiménez Gañan, Enrique, Suh, Simone Dowon, Medina Cantillo, Julita, Moya, Obdulia, Padros, Nuria, Urraca, Sandra Roca, Valdivia, Hugo Gonzalez, Pascual Pascual, Samuel, de Manuel, Sofía, Martin, Susana Noval, Burnham, Paul, Espinosa, Sandra, Moreno, Mercedes Martinez, Topaloglu, Haluk, Oncel, Ibrahim, Eroglu Ertugru, Nesibe, Konuskan, Bahadir, Eldem, Bora, Kadayifçilar, Sibel, Alemdaroglu, Ipek, Karaduman, Aynur Ayse, Yilmaz, Oznur Tunca, Bilgin, Neslihan, Sari, Seher, Chiriboga, Claudia, Lee, John J., Rome-Martin, Donnielle, Day, John W., Beres, Shannon, Duong, Tina, Gee, Richard, Dunaway Young, Sally, Fuerst-Recktenwald, Sabine, Marquet, Anne, Muelhardt, Nicoletta, Trundell, Dylan, Mazzone, Elena S, Nascimento, Andres, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Staunton, Hannah, Yeung, Wai Yin, Martin, Carmen, Fontoura, Paulo, and Day, John W

Published
2022
Full Text
View/download PDF

5. Contributors

Author

Aleman, Tomas S., primary, Amati-Bonneau, Patrizia, additional, Arveiler, Benoît, additional, Ashworth, Jane L., additional, Audo, Isabelle, additional, Bacci, Giacomo M., additional, Balducci, Nicole, additional, Balikova, Irina, additional, Bauwens, Miriam, additional, Barboni, Piero, additional, Birtel, Johannes, additional, Biswas, Susmito, additional, Black, Graeme C.M., additional, Blanchet, Catherine, additional, Bocquet, Béatrice, additional, Boon, Camiel J.F., additional, Brézin, Antoine, additional, Roziers, Cyril Burin des, additional, Burkitt-Wright, Emma, additional, Callea, Michele, additional, Carbonelli, Michele, additional, Carelli, Valerio, additional, Cehajic-Kapetanovic, Jasmina, additional, Chandler, Kate E., additional, Chandra, Aman, additional, Clayton-Smith, Jill, additional, Colijn, Johanna M., additional, Coppieters, Frauke, additional, A. Cukras, Catherine, additional, Daly, Avril, additional, De Baere, Elfride, additional, De Zaeytijd, Julie, additional, Borman, Arundhati Dev, additional, Dollfus, Hélène, additional, Houge, Sofia Douzgou, additional, Engle, Elizabeth C., additional, Escher, Pascal, additional, Evans, D. Gareth, additional, Fahnehjelm, Kristina Teär, additional, Fasser, Christina, additional, Fiore, Mathieu, additional, Fujinami, Kaoru, additional, Fujinami-Yokokawa, Yu, additional, Gallie, Brenda L., additional, Georgiou, Michalis, additional, Gliem, Martin, additional, Grudzinska Pechhacker, Monika K., additional, Hall, Georgina, additional, Harmening, Wolf M., additional, Henderson, Robert H., additional, Héon, Elise, additional, Hirji, Nashila, additional, Holz, Frank G., additional, A. Huryn, Laryssa, additional, Jones, Elizabeth A., additional, Kalatzis, Vasiliki, additional, Khan, Arif O., additional, Kim, Ungsoo S., additional, Klaver, Caroline C.W., additional, Kumaran, Neruban, additional, La Morgia, Chiara, additional, Lalloo, Fiona, additional, Lasseaux, Eulalie, additional, Lee, Helena, additional, Lenaers, Guy, additional, Lenassi, Eva, additional, Leroy, Bart P., additional, Liskova, Petra, additional, Lloyd, I. Christopher, additional, MacLaren, Robert E., additional, Mahroo, Omar A., additional, Mejia-Vergara, Alvaro J., additional, Meunier, Isabelle, additional, Michaelides, Michel, additional, Moore, Anthony T., additional, Moosajee, Mariya, additional, Morice-Picard, Fanny, additional, Munier, Francis L., additional, Neveu, Magella M., additional, O'Neil, Erin C., additional, Nordenström, Anna, additional, Parry, Neil R.A., additional, Patrício, Maria I., additional, Parulekar, Manoj V., additional, Ram, Dipak, additional, Ramsden, Simon C., additional, Robitaille, Johane, additional, Robson, Anthony G., additional, Rothschild, Pierre-Raphaël, additional, Sadun, Alfredo A., additional, Schuerch, Kaspar, additional, Seabra, Miguel C., additional, Self, Jay E., additional, Sergouniotis, Panagiotis I., additional, Shaya, Fadi, additional, Sieving, Paul A., additional, Strubbe, Ine, additional, Simonelli, Francesca, additional, Small, Kent W., additional, Snead, Martin P., additional, Stepien, Karolina M., additional, Talib, Mays, additional, Taylor, Rachel L., additional, Testa, Francesco, additional, Thiadens, Alberta A.H.J., additional, Traboulsi, Elias I., additional, Tran, Viet H., additional, Vaclavik, Veronika, additional, Valleix, Sophie, additional, Van Cauwenbergh, Caroline, additional, Van Schil, Kristof, additional, Whitman, Mary C., additional, Willoughby, Colin E., additional, Xue, Kanmin, additional, Yang, Jingyan, additional, Yu-Wai-Man, Patrick, additional, Zeitz, Christina, additional, and Zinkernagel, Martin, additional

Published
2022
Full Text
View/download PDF

6. Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.

Author

Bauwens, Miriam, De Man, Vincent, Audo, Isabelle, Balikova, Irina, Zein, Wadih M., Smirnov, Vasily, Held, Sebastian, Vermeer, Sascha, Loos, Elke, Jacob, Julie, Casteels, Ingele, Désir, Julie, Depasse, Fanny, Van de Sompele, Stijn, Van Heetvelde, Mattias, De Bruyne, Marieke, Andrieu, Camille, Condroyer, Christel, Antonio, Aline, and Hufnagel, Robert

Abstract

Usher syndrome (USH) is the most common cause of deafblindness. USH is autosomal recessively inherited and characterized by rod‐cone dystrophy or retinitis pigmentosa (RP), often accompanied by sensorineural hearing loss. Variants in >15 genes have been identified as causative for clinically and genetically distinct subtypes. Among the ultra‐rare and recently discovered genes is ARSG, coding for the lysosomal sulfatase Arylsulfatase G. This subtype was assigned as "USH IV" with a late onset of RP and usually late‐onset progressive SNHL without vestibular involvement. Here, we describe nine new subjects and the clinical description of four cases with the USH IV phenotype bearing seven novel and two known pathogenic variants. Functional experiments indicated the complete loss of sulfatase enzymatic activity upon ectopic expression of mutated ARSG cDNA. Interestingly, we identified a homozygous missense variant, p.(Arg99His), previously described in dogs with neuronal ceroid lipofuscinosis. Our study expands the genetic landscape of ARSG‐USH IV and the number of known subjects by more than 30%. These findings highlight that USH IV likely has been underdiagnosed and emphasize the need to test molecularly unresolved subjects with deafblindness syndrome. Finally, testing of ARSG should be considered for the genetic work‐up of apparent isolated inherited retinal diseases. [ABSTRACT FROM AUTHOR]

Published
2025
Full Text
View/download PDF

9. ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Author

Bauwens, Miriam, Garanto, Alejandro, Sangermano, Riccardo, Naessens, Sarah, Weisschuh, Nicole, De Zaeytijd, Julie, Khan, Mubeen, Sadler, Françoise, Balikova, Irina, Van Cauwenbergh, Caroline, Rosseel, Toon, Bauwens, Jim, De Leeneer, Kim, De Jaegere, Sarah, Van Laethem, Thalia, De Vries, Meindert, Carss, Keren, Arno, Gavin, Fakin, Ana, Webster, Andrew R., de Ravel de l’Argentière, Thomy J. L., Sznajer, Yves, Vuylsteke, Marnik, Kohl, Susanne, Wissinger, Bernd, Cherry, Timothy, Collin, Rob W. J., Cremers, Frans P. M., Leroy, Bart P., and De Baere, Elfride

Published
2019
Full Text
View/download PDF

10. Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect

Author

Cideciyan, Artur V., Jacobson, Samuel G., Drack, Arlene V., Ho, Allen C., Charng, Jason, Garafalo, Alexandra V., Roman, Alejandro J., Sumaroka, Alexander, Han, Ian C., Hochstedler, Maria D., Pfeifer, Wanda L., Sohn, Elliott H., Taiel, Magali, Schwartz, Michael R., Biasutto, Patricia, Wit, Wilma de, Cheetham, Michael E., Adamson, Peter, Rodman, David M., Platenburg, Gerard, Tome, Maria D., Balikova, Irina, Nerinckx, Fanny, Zaeytijd, Julie De, Van Cauwenbergh, Caroline, Leroy, Bart P., and Russell, Stephen R.

Published
2019
Full Text
View/download PDF

11. CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study

Author

Nguyen, Xuan-Thanh-An, Talib, Mays, van Cauwenbergh, Caroline, van Schooneveld, Mary J., Fiocco, Marta, Wijnholds, Jan, ten Brink, Jacoline B., Florijn, Ralph J., Schalij-Delfos, Nicoline E., Dagnelie, Gislin, van Genderen, Maria M., de Baere, Elfride, Meester-Smoor, Magda A., De Zaeytijd, Julie, Balikova, Irina, Thiadens, Alberta A., Hoyng, Carel B., Klaver, Caroline C., van den Born, L. Ingeborgh, Bergen, Arthur A., Leroy, Bart P., and Boon, Camiel J.F.

Published
2021
Full Text
View/download PDF

12. Paediatric cataract surgery with 27G vitrectomy instrumentation: the Ghent University Hospital Experience

Author

Chan, Hwei Wuen, primary, Van den Broeck, Filip, additional, Cools, Axelle, additional, Walraedt, Sophie, additional, Joniau, Inge, additional, Verdin, Hannah, additional, Balikova, Irina, additional, Van Nuffel, Stefaan, additional, Delbeke, Patricia, additional, De Baere, Elfride, additional, Leroy, Bart P., additional, and Nerinckx, Fanny, additional

Published
2023
Full Text
View/download PDF

13. Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Author

Van de Sompele, Stijn, Small, Kent W., Cicekdal, Munevver Burcu, Soriano, Víctor López, D’haene, Eva, Shaya, Fadi S., Agemy, Steven, Van der Snickt, Thijs, Rey, Alfredo Dueñas, Rosseel, Toon, Van Heetvelde, Mattias, Vergult, Sarah, Balikova, Irina, Bergen, Arthur A., Boon, Camiel J.F., De Zaeytijd, Julie, Inglehearn, Chris F., Kousal, Bohdan, Leroy, Bart P., Rivolta, Carlo, Vaclavik, Veronika, van den Ende, Jenneke, van Schooneveld, Mary J., Gómez-Skarmeta, José Luis, Tena, Juan J., Martinez-Morales, Juan R., Liskova, Petra, Vleminckx, Kris, De Baere, Elfride, Human Genetics, ANS - Complex Trait Genetics, ARD - Amsterdam Reproduction and Development, Ophthalmology, Ghent University, European Commission, Foundation Fighting Blindness, and Research Foundation - Flanders

Subjects
Adult, EXPRESSION, DOMAINS, PHOTORECEPTOR, North Carolina macular dystrophy, NCMD, non-coding single-nucleotide variants, SNVs, PRDM13, Retina, STRUCTURAL VARIANTS, Xenopus laevis, Genetics, Medicine and Health Sciences, Animals, Humans, Ccis-regulatory elements, CREswhole-genome sequencing, North Carolina macular dystrophy, Genetics (clinical), Corneal Dystrophies, Hereditary, NCMD, enhanceropathy, Biology and Life Sciences, TRANSGENESIS, multi-omics, GENE, DUPLICATION, UMI-4, Pedigree, FAMILY, GENOME, cis-regulatory elements, CREs, whole-genome sequencing, cis-regulatory elements, UMI-4C, CREs, non-coding single-nucleotide variants, SNVs, Human medicine, human retina, Tomography, Optical Coherence, IRX1
Abstract

North Carolina macular dystrophy (NCMD) is a rare autosomal-dominant disease affecting macular development. The disease is caused by non-coding single-nucleotide variants (SNVs) in two hotspot regions near PRDM13 and by duplications in two distinct chromosomal loci, overlapping DNase I hypersensitive sites near either PRDM13 or IRX1. To unravel the mechanisms by which these variants cause disease, we first established a genome-wide multi-omics retinal database, RegRet. Integration of UMI-4C profiles we generated on adult human retina then allowed fine-mapping of the interactions of the PRDM13 and IRX1 promoters and the identification of eighteen candidate cis-regulatory elements (cCREs), the activity of which was investigated by luciferase and Xenopus enhancer assays. Next, luciferase assays showed that the non-coding SNVs located in the two hotspot regions of PRDM13 affect cCRE activity, including two NCMD-associated non-coding SNVs that we identified herein. Interestingly, the cCRE containing one of these SNVs was shown to interact with the PRDM13 promoter, demonstrated in vivo activity in Xenopus, and is active at the developmental stage when progenitor cells of the central retina exit mitosis, suggesting that this region is a PRDM13 enhancer. Finally, mining of single-cell transcriptional data of embryonic and adult retina revealed the highest expression of PRDM13 and IRX1 when amacrine cells start to synapse with retinal ganglion cells, supporting the hypothesis that altered PRDM13 or IRX1 expression impairs interactions between these cells during retinogenesis. Overall, this study provides insight into the cis-regulatory mechanisms of NCMD and supports that this condition is a retinal enhanceropathy., This work was supported by grants from Ghent University Special Research Fund (BOF20/GOA/023) (E.D.B., K.V., B.P.L.); Ghent University Hospital Innovation Fund NucleUZ (E.D.B.); JED Foundation (E.D.B.); H2020 Marie Sklodowska-Curie Innovative Training Networks (ITN) StarT (grant No. 813490) (E.D.B., K.V., J.L.G.-S., J.J.T., J.R.M.-M.); EJP RD Solve-RET EJPRD19-234 (E.D.B., P.L.,B.K., C.R., J.L.G.-S., J.J.T., J.R.M.-M.), SNSF grant # 204285 (C.R.), and Foundation Fighting Blindness in Columbia, MD (grant #: BR-GE-1216-0715-CSH). S.V.d.S. (1145719N) is PhD fellow of the Research Foundation Flanders (FWO), E.D.B. (1802220N) and B.P.L. (1803816N) are FWO Senior Clinical Investigators; M.B.C., V.L.S., and A.D.R. are Early Starting Researcher of ITN StarT (grant # 813490). B.K., B.P.L., C.J.F.B., E.D.B., P.L., and V.V. are members of ERN-EYE (Framework Partnership Agreement No 739534-ERNEYE). K.W.S. received an unrestricted grant from The Molecular Insight Research Foundation.

Published
2022
Full Text
View/download PDF

14. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial

Author

Masson, Riccardo, primary, Mazurkiewicz-Bełdzińska, Maria, additional, Rose, Kristy, additional, Servais, Laurent, additional, Xiong, Hui, additional, Zanoteli, Edmar, additional, Baranello, Giovanni, additional, Bruno, Claudio, additional, Day, John W, additional, Deconinck, Nicolas, additional, Klein, Andrea, additional, Mercuri, Eugenio, additional, Vlodavets, Dmitry, additional, Wang, Yi, additional, Dodman, Angela, additional, El-Khairi, Muna, additional, Gorni, Ksenija, additional, Jaber, Birgit, additional, Kletzl, Heidemarie, additional, Gaki, Eleni, additional, Fontoura, Paulo, additional, Darras, Basil T, additional, Volpe, Joseph J, additional, Posner, John, additional, Kellner, Ulrich, additional, Quinlivan, Rosaline, additional, Gerber, Marianne, additional, Khwaja, Omar, additional, Scalco, Renata S, additional, Seabrook, Timothy, additional, Koch, Armin, additional, Balikova, Irina, additional, Joniau, Inge, additional, Accou, Geraldine, additional, Tahon, Valentine, additional, Wittevrongel, Sylvia, additional, De Vos, Elke, additional, de Holanda Mendonça, Rodrigo, additional, Matsui Jr, Ciro, additional, Fornazieri Darcie, Ana Letícia, additional, Machado, Cleide, additional, Kiyoko Oyamada, Maria, additional, Martini, Joyce, additional, Polido, Graziela, additional, Rodrigues Iannicelli, Juliana, additional, Caires de Oliveira Achili Ferreira, Juliana, additional, Hu, Chaoping, additional, Zhu, Xiaomei, additional, Qian, Chen, additional, Shen, Li, additional, Li, Hui, additional, Shi, Yiyun, additional, Zhou, Shuizhen, additional, Xiao, Ying, additional, Zhou, Zhenxuan, additional, Wang, Sujuan, additional, Sang, Tian, additional, Wei, Cuijie, additional, Dong, Hui, additional, Cao, Yiwen, additional, Wen, Jing, additional, Li, Wenzhu, additional, Qin, Lun, additional, Barisic, Nina, additional, Celovec, Ivan, additional, Galiot Delic, Martina, additional, Ivkic, Petra Kristina, additional, Vukojevic, Nenad, additional, Kern, Ivana, additional, Najdanovic, Boris, additional, Skugor, Marin, additional, Tomas, Josipa, additional, Boespflug-Tanguy, Odile, additional, De Lucia, Silvana, additional, Seferian, Andrea, additional, Barreau, Emmanuel, additional, Mnafek, Nabila, additional, Peche, Helene, additional, Grange, Allison, additional, Trang Nguyen, Diem, additional, Milascevic, Darko, additional, Tachibana, Shotaro, additional, Pagliano, Emanuela, additional, Bianchi Marzoli, Stefania, additional, Santarsiero, Diletta, additional, Garcia Sierra, Myriam, additional, Tremolada, Gemma, additional, Arnoldi, Maria Teresa, additional, Vigano, Marta, additional, Dosi, Claudia, additional, Zanin, Riccardo, additional, Schembri, Veronica, additional, Brolatti, Noemi, additional, Rao, Giuseppe, additional, Tassara, Elisa, additional, Morando, Simone, additional, Tacchetti, Paola, additional, Pedemonte, Marina, additional, Priolo, Enrico, additional, Sposetti, Lorenza, additional, Comi, Giacomo Pietro, additional, Govoni, Alessandra, additional, Osnaghi, Silvia Gabriella, additional, Minorini, Valeria, additional, Abbati, Francesca, additional, Fassini, Federica, additional, Foa, Michaela, additional, Lopopolo, Amalia, additional, Pane, Marika, additional, Palermo, Concetta, additional, Pera, Maria Carmela, additional, Amorelli, Giulia Maria, additional, Barresi, Costanza, additional, D'Amico, Guglielmo, additional, Orazi, Lorenzo, additional, Coratti, Giorgia, additional, Leone, Daniela, additional, Laura, Antonaci, additional, De Sanctis, Roberto, additional, Berti, Beatrice, additional, Kimura, Naoki, additional, Takeshima, Yasuhiro, additional, Shimomura, Hideki, additional, Lee, Tomoko, additional, Gomi, Fumi, additional, Morimatsu, Takanobu, additional, Furukawa, Toru, additional, Stodolska-Koberda, Urszula, additional, Waskowska, Agnieszka, additional, Kolendo, Jagoda, additional, Sobierajska-Rek, Agnieszka, additional, Modrzejewska, Sandra, additional, Lemska, Anna, additional, Melnik, Evgenia, additional, Artemyeva, Svetlana, additional, Leppenen, Natalya, additional, Yupatova, Nataliya, additional, Monakhova, Anastasya, additional, Papina, Yulia, additional, Shidlovsckaia, Olga, additional, Litvinova, Elena, additional, Enzmann, Cornelia, additional, Galiart, Elea, additional, Gugleta, Konstantin, additional, Wondrusch Haschke, Christine, additional, Topaloglu, Haluk, additional, Oncel, Ibrahim, additional, Ertugrul, Nesibe Eroglu, additional, Konuskan, Bahadir, additional, Eldem, Bora, additional, Kadayifçilar, Sibel, additional, Alemdaroglu, Ipek, additional, Sari, Seher, additional, Bilgin, Neslihan, additional, Karaduman, Aynur Ayse, additional, Sarikaya, Fatma Gokcem Yildiz, additional, Graham, Robert J, additional, Ghosh, Partha, additional, Casavant, David, additional, Levine, Alexis, additional, Titus, Rachael, additional, Engelbrekt, Amanda, additional, Ambrosio, Lucia, additional, Fulton, Anne, additional, Baglieri, Anna Maria, additional, Dias, Courtney, additional, Maczek, Elizabeth, additional, Pasternak, Amy, additional, Beres, Shannon, additional, Duong, Tina, additional, Gee, Richard, additional, and Young, Sally, additional

Published
2022
Full Text
View/download PDF

16. MULTIMODAL IMAGING in HELLP-RELATED CHORIORETINOPATHY

Author

Van Rysselberge, Camille, Balikova, Irina, Judice De Menezes Relvas, Lia, Makhoul, Dorine, Postelmans, Laurence, Van Rysselberge, Camille, Balikova, Irina, Judice De Menezes Relvas, Lia, Makhoul, Dorine, and Postelmans, Laurence

Abstract

Purpose:To illustrate with multimodal imaging a case of HELLP syndrome (Hemolysis, Elevated Liver enzymes, Low Platelets) complicated by bilateral multifocal serous retinal detachments, subretinal exudation, and papilledema.Methods:Case report. Fundus photography, spectral domain optical coherence tomography (SD-OCT), fluorescein angiography, and indocyanine green angiography were performed at presentation and the day after. We also present the SD-OCT follow-up at 8 days, 1 year, and 4 years.Results:A 25-year-old 5-month-pregnant Guinean woman complained about decreased visual acuity in the right eye. Eye fundus and multimodal imaging were abnormal in both eyes. Spectral domain optical coherence tomography showed the presence of multifocal serous retinal detachments, subretinal deposits, and intraretinal cysts. Indocyanin green angiography revealed an irregular choroidal perfusion and localized choroidal ischemia. Spectral domain optical coherence tomography also provided assessment of retinal changes during the long-term follow-up, showing tissue damage in the outer retina.Conclusion:Serous retinal detachments during pregnancy can be the leading sign of HELLP syndrome - a potentially life-threatening condition. Spectral domain optical coherence tomography is a noninvasive and useful tool for its diagnosis and follow-up. ICG is important to confirm the choroidal ischemia and choroidal vascular abnormalities, underlying conditions leading to main sign of HELLP syndrome in the eye., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2022

17. Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Author

Ghent University, European Commission, Foundation Fighting Blindness, Research Foundation - Flanders, Sompele, Stijn Van de, Small, Kent W., Burcu Cicekdal, Munevver, López Soriano, Víctor, D’haene, Eva, Shaya, Fadi S., Agemy, Steven, Snickt, Thijs Van der, Dueñas Rey, Alfredo, Rosseel, Toon, Heetvelde, Mattias Van, Vergult, Sarah, Balikova, Irina, Bergen, Arthur A., Boon, Camiel J.F., Zaeytijd, Julie De, Inglehearn, Chris F., Kousal, Bohdan, Leroy, Bart P., Rivolta, Carlo, Vaclavik, Veronika, Ende, Jenneke van den, Schooneveld, Mary J. van, Gómez-Skarmeta, José Luis, Tena, Juan J., Martínez-Morales, Juan Ramón, Liskova, Petra, Vleminckx, Kris, Baere, Elfride De, Ghent University, European Commission, Foundation Fighting Blindness, Research Foundation - Flanders, Sompele, Stijn Van de, Small, Kent W., Burcu Cicekdal, Munevver, López Soriano, Víctor, D’haene, Eva, Shaya, Fadi S., Agemy, Steven, Snickt, Thijs Van der, Dueñas Rey, Alfredo, Rosseel, Toon, Heetvelde, Mattias Van, Vergult, Sarah, Balikova, Irina, Bergen, Arthur A., Boon, Camiel J.F., Zaeytijd, Julie De, Inglehearn, Chris F., Kousal, Bohdan, Leroy, Bart P., Rivolta, Carlo, Vaclavik, Veronika, Ende, Jenneke van den, Schooneveld, Mary J. van, Gómez-Skarmeta, José Luis, Tena, Juan J., Martínez-Morales, Juan Ramón, Liskova, Petra, Vleminckx, Kris, and Baere, Elfride De

Abstract

North Carolina macular dystrophy (NCMD) is a rare autosomal-dominant disease affecting macular development. The disease is caused by non-coding single-nucleotide variants (SNVs) in two hotspot regions near PRDM13 and by duplications in two distinct chromosomal loci, overlapping DNase I hypersensitive sites near either PRDM13 or IRX1. To unravel the mechanisms by which these variants cause disease, we first established a genome-wide multi-omics retinal database, RegRet. Integration of UMI-4C profiles we generated on adult human retina then allowed fine-mapping of the interactions of the PRDM13 and IRX1 promoters and the identification of eighteen candidate cis-regulatory elements (cCREs), the activity of which was investigated by luciferase and Xenopus enhancer assays. Next, luciferase assays showed that the non-coding SNVs located in the two hotspot regions of PRDM13 affect cCRE activity, including two NCMD-associated non-coding SNVs that we identified herein. Interestingly, the cCRE containing one of these SNVs was shown to interact with the PRDM13 promoter, demonstrated in vivo activity in Xenopus, and is active at the developmental stage when progenitor cells of the central retina exit mitosis, suggesting that this region is a PRDM13 enhancer. Finally, mining of single-cell transcriptional data of embryonic and adult retina revealed the highest expression of PRDM13 and IRX1 when amacrine cells start to synapse with retinal ganglion cells, supporting the hypothesis that altered PRDM13 or IRX1 expression impairs interactions between these cells during retinogenesis. Overall, this study provides insight into the cis-regulatory mechanisms of NCMD and supports that this condition is a retinal enhanceropathy.

Published
2022

19. Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study.

Author

Chiriboga, Claudia A., Bruno, Claudio, Duong, Tina, Fischer, Dirk, Mercuri, Eugenio, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Jaber, Birgit, Gorni, Ksenija, Kletzl, Heidemarie, Carruthers, Imogen, Martin, Carmen, Warren, Francis, Scalco, Renata S., Wagner, Kathryn R., Muntoni, Francesco, the JEWELFISH Study Group, Deconinck, Nicolas, Balikova, Irina, and Joniau, Inge

Published
2023
Full Text
View/download PDF

22. Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Author

Van de Sompele, Stijn, primary, Small, Kent W., additional, Cicekdal, Munevver Burcu, additional, Soriano, Víctor López, additional, D’haene, Eva, additional, Shaya, Fadi S., additional, Agemy, Steven, additional, Van der Snickt, Thijs, additional, Rey, Alfredo Dueñas, additional, Rosseel, Toon, additional, Van Heetvelde, Mattias, additional, Vergult, Sarah, additional, Balikova, Irina, additional, Bergen, Arthur A., additional, Boon, Camiel J. F., additional, De Zaeytijd, Julie, additional, Inglehearn, Chris F., additional, Kousal, Bohdan, additional, Leroy, Bart P., additional, Rivolta, Carlo, additional, Vaclavik, Veronika, additional, van den Ende, Jenneke, additional, van Schooneveld, Mary J., additional, Gómez-Skarmeta, José Luis, additional, Tena, Juan J., additional, Martinez-Morales, Juan R., additional, Liskova, Petra, additional, Vleminckx, Kris, additional, and De Baere, Elfride, additional

Published
2022
Full Text
View/download PDF

23. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial

Author

Mercuri, Eugenio, primary, Deconinck, Nicolas, additional, Mazzone, Elena S, additional, Nascimento, Andres, additional, Oskoui, Maryam, additional, Saito, Kayoko, additional, Vuillerot, Carole, additional, Baranello, Giovanni, additional, Boespflug-Tanguy, Odile, additional, Goemans, Nathalie, additional, Kirschner, Janbernd, additional, Kostera-Pruszczyk, Anna, additional, Servais, Laurent, additional, Gerber, Marianne, additional, Gorni, Ksenija, additional, Khwaja, Omar, additional, Kletzl, Heidemarie, additional, Scalco, Renata S, additional, Staunton, Hannah, additional, Yeung, Wai Yin, additional, Martin, Carmen, additional, Fontoura, Paulo, additional, Day, John W, additional, Volpe, Joseph J., additional, Posner, John, additional, Kellner, Ulrich, additional, Quinlivan, Rosaline, additional, Daron, Aurore, additional, Delstanche, Stéphanie, additional, Bruninx, Romain, additional, Dal Farra, Fabian, additional, Schneider, Olivier, additional, Balikova, Irina, additional, Delbeke, Patricia, additional, Joniau, Inge, additional, Tahon, Valentine, additional, Wittevrongel, Sylvia, additional, De Vos, Elke, additional, Casteels, Ingele, additional, De Waele, Liesbeth, additional, Cassiman, Catherine, additional, Prové, Lies, additional, Kinoo, David, additional, Vancampenhout, Lisa, additional, Van Den Hauwe, Marleen, additional, Van Impe, Annelies, additional, Prufer de Queiroz Campos Araujo, Alexandra, additional, Chacon Pereira, Aline, additional, Nardes, Flávia, additional, Haefeli, Lorena, additional, Rossetto, Julia, additional, Ferreira Rebel, Marcos, additional, Almeida Pereira, Jaqueline, additional, Campbell, Craig, additional, Sharan, Sapna, additional, McDonald, Wendy, additional, Scholtes, Cheryl, additional, Mah, Jean, additional, Sframeli, Maria, additional, Chiu, Angela, additional, Hagel, Jane, additional, Beneish, Raquel, additional, Cariou-Palmer, Gaela, additional, Pham, Connie, additional, Toffoli, Daniela, additional, Arpin, Stephanie, additional, Turgeon Desilets, Sarah, additional, Wang, Yi, additional, Hu, Chaoping, additional, Huan, Jianfeng, additional, Qian, Chen, additional, Shen, Li, additional, Xiao, Ying, additional, Zhou, Zhenxuan, additional, Li, Hui, additional, Wang, Sujuan, additional, Xiong, Hui, additional, Chang, Xingzhi, additional, Dong, Hui, additional, Liu, Ying, additional, Sang, Tian, additional, Wei, Cuijie, additional, Wen, Jing, additional, Cao, Yiwen, additional, Ly, Xingyao, additional, Zhao, Jingjing, additional, Li, Wenzhu, additional, Qin, Lun, additional, Barisic, Nina, additional, Galiot Delic, Martina, additional, Ivkic, Petra Kristina, additional, Vukojevic, Nenad, additional, Kern, Ivana, additional, Najdanovic, Boris, additional, Skugor, Marin, additional, Gidaro, Teresa, additional, Seferian, Andreea, additional, De Lucia, Silvana, additional, Barreau, Emmanuel, additional, Mnafek, Nabila, additional, Momtchilova, Marta Milkova, additional, Peche, Helene, additional, Valherie, Carole, additional, Grange, Allison, additional, Lilien, Charlotte, additional, Milascevic, Darko, additional, Tachibana, Shotaro, additional, Ravelli, Claudia, additional, Cardas, Ruxandra, additional, Taytard, Jessica, additional, Aubertin, Guillaume, additional, Vanden Brande, Laure, additional, Davion, Jean-Baptiste, additional, Coopman, Stephanie, additional, Bouacha, Ikram, additional, Debruyne, Philippe, additional, Defoort, Sabine, additional, Derlyn, Gilles, additional, Leroy, Florian, additional, Danjoux, Loïc, additional, Guilbaud, Julie, additional, Desguerre, Isabelle, additional, Barnérias, Christine, additional, Semeraro, Michaela, additional, Bremond-Gignac, Dominique, additional, Bruere, Lenaic, additional, Rateaux, Maxence, additional, Deladrière, Élodie, additional, Germa, Virginie, additional, Pereon, Yann, additional, Mercie, Sandra, additional, Billaud, Fanny, additional, Le Goff, Lucie, additional, Letellier, Guy, additional, Portefaix, Aurélie, additional, De-Montferrand, Camille, additional, Le-Goff, Laure, additional, Fontaine, Stephanie, additional, Saidi, Manel, additional, Bouzid, Nabil, additional, Barriere, Aurélie, additional, Tinat, Marie, additional, Dreesbach, Michelle, additional, Lagréze, Wolf, additional, Michaelis, Bettina, additional, Molnar, Fanni, additional, Seger, Dorina, additional, Vogt, Sibylle, additional, Bertini, Enrico, additional, D'Amico, Adele, additional, Petroni, Sergio, additional, Bonetti, Anna Maria, additional, Carlesi, Adelina, additional, Mizzoni, Irene, additional, Bruno, Claudio, additional, Priolo, Enrico, additional, Rao, Giuseppe, additional, Morando, Simone, additional, Tacchetti, Paola, additional, Zuffi, Ambra, additional, Comi, Giacomo Pietro, additional, Brusa, Roberta, additional, Corti, Stefania, additional, Daniele, Velardo, additional, Govoni, Alessandra, additional, Magri, Francesca, additional, Minorini, Valeria, additional, Osnaghi, Silvia Gabriella, additional, Abbati, Francesca, additional, Fassini, Federica, additional, Foa, Michaela, additional, Lopopolo, Amaqlia, additional, Meneri, Megi, additional, Zoppas, Francesca, additional, Parente, Valeria, additional, Masson, Riccardo, additional, Bianchi Marzoli, Stefania, additional, Santarsiero, Diletta, additional, Garcia Sierra, Myriam, additional, Tremolada, Gemma, additional, Arnoldi, Maria Teresa, additional, Vigano, Marta, additional, Zanin, Riccardo, additional, Mercuri, Eugenio, additional, Antonaci, Laura, additional, de Sanctis, Roberto, additional, Pane, Marika, additional, Pera, Maria Carmela, additional, Amorelli, Giulia Maria, additional, Barresi, Costanza, additional, D'Amico, Gugliemo, additional, Orazi, Lorenzo, additional, Coratti, Giorgia, additional, Haginoya, Kazuhiro, additional, Kato, Atsuko, additional, Morishita, Yuko, additional, Kira, Ryutaro, additional, Akiyama, Kiyomu, additional, Goto, Miwako, additional, Mori, Yujiro, additional, Okamoto, Misato, additional, Tsutsui, Saki, additional, Takatsuji, Yuta, additional, Tanaka, Aya, additional, Komaki, Hirofumi, additional, Omori, Miina, additional, Suzuki, Ippei, additional, Takeuchi, Mizuki, additional, Todoroki, Daisuke, additional, Watanabe, Seji, additional, Matsubayashi, Tomoko, additional, Inakazu, Emi, additional, Nagura, Hiroe, additional, Suzuki, Akira, additional, Usui, Manami, additional, Ishikawa, Nobutsune, additional, Harada, Yousuke, additional, Fudeyasu, Kenishi, additional, Hirata, Kazuhiko, additional, Michiue, Kana, additional, Ueda, Kazuyuki, additional, Fujitani, Junko, additional, Arakawa, Reiko, additional, Takano, Kozue, additional, Yashiro, Shigeko, additional, Seki, Maiko, additional, Sano, Nozomi, additional, Fukuyama, Koji, additional, Matsumoto, Yuki, additional, Miyazaki, Hirofumi, additional, Shibata, Minoru, additional, Kobayashi, Kyoko, additional, Nakamura, Yukie, additional, Takeshima, Yasuhiro, additional, Kuma, Moe, additional, Fraczek, Anna, additional, Jedrzejowska, Maria, additional, Lusakowska, Anna, additional, Czeszyk-Piotrowicz, Agnieszka, additional, Hautz, Wojciech, additional, Rakusiewicz, Klaudia, additional, Burlewicz, Malgorzata, additional, Gierlak-Wojcicka, Zuzanna, additional, Kepa, Malwina, additional, Sikorski, Adam, additional, Sobieraj, Marcin, additional, Mazurkiewicz-Beldzinska, Maria, additional, Lemska, Anna, additional, Modrzejewska, Sandra, additional, Koberda, Mateusz, additional, Stodolska-Koberda, Urszula, additional, Waskowska, Agnieszka, additional, Kolendo, Jagoda, additional, Sobierajska-Rek, Agnieszka, additional, Steinborn, Barbara, additional, Dalz, Magdalena, additional, Grabowska, Julia, additional, Hajduk, Wojciech, additional, Janasiewicz-Karachitos, Justyna, additional, Klimas, Monika, additional, Stopa, Marcin, additional, Gajewska, Ewa, additional, Pusz, Beata, additional, Vlodavets, Dmitry, additional, Melnik, Evgenia, additional, Leppenen, Natalya, additional, Yupatova, Nataliya, additional, Monakhova, Anastasya, additional, Papina, Yulia, additional, Shidlovsckaia, Olga, additional, Milic Rasic, Vedrana, additional, Brankovic, Vesna, additional, Kosac, Ana, additional, Djokic, Olivera, additional, Jakšic, Vesna, additional, Pepic, Ana, additional, Martinovic, Jelena, additional, Munell Casadesus, Francina, additional, Tizzano, Eduardo, additional, Martín Begué, Nieves, additional, Wolley Dod, Charlotte, additional, Subira, Olaia, additional, Planas Pascual, Bernat, additional, Toro Tamargo, Esther, additional, Madruga Garrido, Marcos, additional, Medina Romero, José David, additional, Salinas, Marta Peña, additional, Nascimento Osorio, Andrés, additional, Díaz Cortés, Ana, additional, Jiménez Gañan, Enrique, additional, Suh, Simone Dowon, additional, Medina Cantillo, Julita, additional, Moya, Obdulia, additional, Padros, Nuria, additional, Urraca, Sandra Roca, additional, Valdivia, Hugo Gonzalez, additional, Pascual Pascual, Samuel, additional, de Manuel, Sofía, additional, Martin, Susana Noval, additional, Burnham, Paul, additional, Espinosa, Sandra, additional, Moreno, Mercedes Martinez, additional, Topaloglu, Haluk, additional, Oncel, Ibrahim, additional, Eroglu Ertugru, Nesibe, additional, Konuskan, Bahadir, additional, Eldem, Bora, additional, Kadayifçilar, Sibel, additional, Alemdaroglu, Ipek, additional, Karaduman, Aynur Ayse, additional, Yilmaz, Oznur Tunca, additional, Bilgin, Neslihan, additional, Sari, Seher, additional, Chiriboga, Claudia, additional, Lee, John J., additional, Rome-Martin, Donnielle, additional, Day, John W., additional, Beres, Shannon, additional, Duong, Tina, additional, Gee, Richard, additional, Dunaway Young, Sally, additional, Fuerst-Recktenwald, Sabine, additional, Marquet, Anne, additional, Muelhardt, Nicoletta, additional, and Trundell, Dylan, additional

Published
2022
Full Text
View/download PDF

26. Expanding the clinical spectrum and management of traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH

Author

Van Hoorde, Tom, Nerinckx, Fanny, Kreps, Elke, Roels, Dimitri, Huyghe, Philippe, Van Heetvelde, Mattias, Verdin, Hannah, De Baere, Elfride, Balikova, Irina, and Leroy, Bart P.

Subjects
genetic structures, sense organs, eye diseases
Abstract

Background: Traboulsi syndrome is a very rare, syndromic form of ectopia lentis that is potentially sight-threatening at a young age. It is characterized by typical facial, skeletal and ocular signs. Materials and Methods: Two siblings, born to consanguineous parents, with a clinical phenotype consistent with Traboulsi syndrome, underwent extensive ophthalmic imaging and exome-based genetic testing. Both were treated with unilateral clear lens extraction via a limbal approach. Results: Two siblings, one male and one female, presented with systemic and ocular features consistent with Traboulsi syndrome. Lens subluxation was present in all 4fouraffected eyes, and spontaneous subconjunctival bleb formation was detected in one eye. This eye also showed evidence of keratoconus-related corneal thinning. The clinical diagnosis of Traboulsi syndrome was confirmed molecularly. A homozygous, novel, pathogenic nonsense variant was identified in exon 25 of the ASPH gene: c.2181_2183dup, p.(Val727_Trp728insTer). Excellent visual outcomes following clear lens extraction and postoperative rigid gas-permeable contact lens fitting were obtained. Conclusions: We expanded the genetic spectrum of Traboulsi syndrome with a novel frameshift variant in the ASPH gene. We showed that lensectomy followed by gas-permeable contact lenses is an efficient therapeutic approach to treat lens subluxation in Traboulsi syndrome. However, lifelong follow-up is crucial to avoid (late) postoperative complications.

Published
2021
Full Text
View/download PDF

27. Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls

Author

J Volpe, Joseph, Posner, John, Koch, Armin, Kellner, Ulrich, Quinlivan, Rosaline, Deconinck, Nicola, Balikova, Irina, Delbeke, Patricia, Joniau, Inge, Tahon, Valentine, Wittevrongel, Sylvia, De Vos, Elke, Zanoteli, Edmar, de Holanda Mendonça, Rodrigo, Matsui Jr, Ciro, Letícia Fornazieri Darcie, Ana, Machado, Cleide, Kiyoko Oyamada, Maria, de Souza Costa, Daniel, Martini, Joyce, Polido, Graziela, Rodrigues Iannicelli, Juliana, Caires de Oliveira Achili Ferreira, Juliana, Wang, Yi, Hu, Chaoping, Shi, Yiyun, Zhou, Shuizhen, Zhu, Xiaomei, Qian, Chen, Shen, Li, Xiao, Ying, Zhou, Zhenxuan, Li, Hui, Wang, Sujuan, Xiong, Hui, Sang, Tian, Wei, Cuijie, Wen, Jing, Cao, Yiwen, Li, Wenzhu, Qin, Lun, Barisic, Nina, Celovec, Ivan, Martina, Martina, Delic, Galiot, Kristina Ivkić, Petra, Vukojević, Nenad, Kern, Ivana, Najdanovic, Bori, Skugor, Marin, Servais, Laurent, Boespflug-Tanguy, Odile, Gidaro, Teresa, Seferian, Andrea, Barreau, Emmanuel, Da Cunha, Elodie, Lambotin, Céline, Mnafek, Nabila, Peche, Helene, Gilabert, Stephanie, Grange, Allison, Lilien, Charlotte, Milascevic, Darko, Perticari, Ariadna, Tachibana, Shotaro, Baranello, Giovanni, Masson, Riccardo, Pagliano, Emanuela, Bianchi Marzoli, Stefania, Santarsiero, Diletta, Garcia Sierra, Myriam, Tremolada, Gemma, Teresa Arnoldi, Maria, Vigano, Marta, Zanin, Riccardo, Bruno, Claudio, Brolatti, Noemi, Pedemonte, Marina, Priolo, Enrico, Rao, Giuseppe, Spaletra, Enrica, Sposetti, Lorenza, Tassara, Elisa, Morando, Simone, Tacchetti, Paola, Pietro Comi, Giacomo, Govoni, Alessandra, Gabriella Osnaghi, Silvia, Minorini, Valeria, Abbati, Francesca, Fassini, Federica, Foa, Michaela, Lopopolo, Amalia, Minuti, Elisa, Mercuri, Eugenio Maria, Pane, Marika, Palermo, Concetta, Pera, Maria Carmela, Amorelli, Giulia Maria, Barresi, Costanza, D'Amico, Gugliemo, Orazi, Lorenzo, Coratti, Giorgia, De Sanctis, Roberto, Takeshima, Yasuhiro, Gomi, Fumi, Kimura, Naoki, Morimatsu, Takanobu, Okamoto, Mana, Furukawa, Toru, Mazurkiewicz-Bełdzińska, Maria, Koberda, Mateusz, Kubiak, Natalia, Stodolska-Koberda, Urszula, Waśkowska, Agnieszka, Kolendo, Jagoda, Sobierajska-Rek, Agnieszka, Vlodavets, Dmitry, Artemyeva, Svetlana, Melnik, Evgenia, Leppenen, Natalya, Yupatova, Nataliya, Litvinova, Elena, Monakhova, Anastasya, Papina, Yulia, Shidlovsckaia, Olga, Klein, Andrea, Enzmann, Cornelia, Galiart, Elea, Gugleta, Konstantin, Siems, Patricia, Kreiliger, Verena, Wondrusch Haschke, Christine, Topaloglu, Haluk, Oncel, Ibrahim, Ardicli, Didem, Eroglu Ertugrul, Nesibe, Gharibzadeh, Hizal, Gunbey, Ceren, Konuskan, Bahadir, Serel Arslan, Selen, Ebru Yalcin, Elam, Gokcem Yildiz Sarikaya, Fatma, Eldem, Bora, Kadayıfçılar, Sibel, Alemdaroglu, Ipek, Ayse Karaduman, Aynur, Tunca Yilmaz, Oznur, T Darras, Basil, J Graham, Robert, Ghosh, Partha, Casavant, David, Snyder, Brian, Levine, Alexi, Titus, Rachael, Engelbrekt, Amanda, Ambrosio, Lucia, Fulton, Anne, Maria Baglieri, Anna, Dias, Courtney, Maczek, Elizabeth, Mirek, Elizabeth, Pasternak, Amy, W Day, John, Beres, Shannon, Duong, Tina, Gee, Richard, Young, Sally, Giovanni Baranello, Eugenio Mercuri (ORCID:0000-0002-9851-5365), Marika Pane (ORCID:0000-0002-4851-6124), Maria Carmela Pera (ORCID:0000-0001-6777-1721), Giulia Maria Amorelli, Lorenzo Orazi, Giorgia Coratti (ORCID:0000-0001-6666-5628), Roberto De Sanctis, J Volpe, Joseph, Posner, John, Koch, Armin, Kellner, Ulrich, Quinlivan, Rosaline, Deconinck, Nicola, Balikova, Irina, Delbeke, Patricia, Joniau, Inge, Tahon, Valentine, Wittevrongel, Sylvia, De Vos, Elke, Zanoteli, Edmar, de Holanda Mendonça, Rodrigo, Matsui Jr, Ciro, Letícia Fornazieri Darcie, Ana, Machado, Cleide, Kiyoko Oyamada, Maria, de Souza Costa, Daniel, Martini, Joyce, Polido, Graziela, Rodrigues Iannicelli, Juliana, Caires de Oliveira Achili Ferreira, Juliana, Wang, Yi, Hu, Chaoping, Shi, Yiyun, Zhou, Shuizhen, Zhu, Xiaomei, Qian, Chen, Shen, Li, Xiao, Ying, Zhou, Zhenxuan, Li, Hui, Wang, Sujuan, Xiong, Hui, Sang, Tian, Wei, Cuijie, Wen, Jing, Cao, Yiwen, Li, Wenzhu, Qin, Lun, Barisic, Nina, Celovec, Ivan, Martina, Martina, Delic, Galiot, Kristina Ivkić, Petra, Vukojević, Nenad, Kern, Ivana, Najdanovic, Bori, Skugor, Marin, Servais, Laurent, Boespflug-Tanguy, Odile, Gidaro, Teresa, Seferian, Andrea, Barreau, Emmanuel, Da Cunha, Elodie, Lambotin, Céline, Mnafek, Nabila, Peche, Helene, Gilabert, Stephanie, Grange, Allison, Lilien, Charlotte, Milascevic, Darko, Perticari, Ariadna, Tachibana, Shotaro, Baranello, Giovanni, Masson, Riccardo, Pagliano, Emanuela, Bianchi Marzoli, Stefania, Santarsiero, Diletta, Garcia Sierra, Myriam, Tremolada, Gemma, Teresa Arnoldi, Maria, Vigano, Marta, Zanin, Riccardo, Bruno, Claudio, Brolatti, Noemi, Pedemonte, Marina, Priolo, Enrico, Rao, Giuseppe, Spaletra, Enrica, Sposetti, Lorenza, Tassara, Elisa, Morando, Simone, Tacchetti, Paola, Pietro Comi, Giacomo, Govoni, Alessandra, Gabriella Osnaghi, Silvia, Minorini, Valeria, Abbati, Francesca, Fassini, Federica, Foa, Michaela, Lopopolo, Amalia, Minuti, Elisa, Mercuri, Eugenio Maria, Pane, Marika, Palermo, Concetta, Pera, Maria Carmela, Amorelli, Giulia Maria, Barresi, Costanza, D'Amico, Gugliemo, Orazi, Lorenzo, Coratti, Giorgia, De Sanctis, Roberto, Takeshima, Yasuhiro, Gomi, Fumi, Kimura, Naoki, Morimatsu, Takanobu, Okamoto, Mana, Furukawa, Toru, Mazurkiewicz-Bełdzińska, Maria, Koberda, Mateusz, Kubiak, Natalia, Stodolska-Koberda, Urszula, Waśkowska, Agnieszka, Kolendo, Jagoda, Sobierajska-Rek, Agnieszka, Vlodavets, Dmitry, Artemyeva, Svetlana, Melnik, Evgenia, Leppenen, Natalya, Yupatova, Nataliya, Litvinova, Elena, Monakhova, Anastasya, Papina, Yulia, Shidlovsckaia, Olga, Klein, Andrea, Enzmann, Cornelia, Galiart, Elea, Gugleta, Konstantin, Siems, Patricia, Kreiliger, Verena, Wondrusch Haschke, Christine, Topaloglu, Haluk, Oncel, Ibrahim, Ardicli, Didem, Eroglu Ertugrul, Nesibe, Gharibzadeh, Hizal, Gunbey, Ceren, Konuskan, Bahadir, Serel Arslan, Selen, Ebru Yalcin, Elam, Gokcem Yildiz Sarikaya, Fatma, Eldem, Bora, Kadayıfçılar, Sibel, Alemdaroglu, Ipek, Ayse Karaduman, Aynur, Tunca Yilmaz, Oznur, T Darras, Basil, J Graham, Robert, Ghosh, Partha, Casavant, David, Snyder, Brian, Levine, Alexi, Titus, Rachael, Engelbrekt, Amanda, Ambrosio, Lucia, Fulton, Anne, Maria Baglieri, Anna, Dias, Courtney, Maczek, Elizabeth, Mirek, Elizabeth, Pasternak, Amy, W Day, John, Beres, Shannon, Duong, Tina, Gee, Richard, Young, Sally, Giovanni Baranello, Eugenio Mercuri (ORCID:0000-0002-9851-5365), Marika Pane (ORCID:0000-0002-4851-6124), Maria Carmela Pera (ORCID:0000-0001-6777-1721), Giulia Maria Amorelli, Lorenzo Orazi, Giorgia Coratti (ORCID:0000-0001-6666-5628), and Roberto De Sanctis

Abstract

Background Type 1 spinal muscular atrophy (SMA) is a progressive neuromuscular disease characterized by an onset at 6 months of age or younger, an inability to sit without support, and deficient levels of survival of motor neuron (SMN) protein. Risdiplam is an orally administered small molecule that modifies SMN2 pre-messenger RNA splicing and increases levels of functional SMN protein in blood. Methods We conducted an open-label study of risdiplam in infants with type 1 SMA who were 1 to 7 months of age at enrollment. Part 1 of the study (published previously) determined the dose to be used in part 2 (reported here), which assessed the efficacy and safety of daily risdiplam as compared with no treatment in historical controls. The primary end point was the ability to sit without support for at least 5 seconds after 12 months of treatment. Key secondary end points were a score of 40 or higher on the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND; range, 0 to 64, with higher scores indicating better motor function), an increase of at least 4 points from baseline in the CHOP-INTEND score, a motor-milestone response as measured by Section 2 of the Hammersmith Infant Neurological Examination (HINE-2), and survival without permanent ventilation. For the secondary end points, comparisons were made with the upper boundary of 90% confidence intervals for natural-history data from 40 infants with type 1 SMA. Results A total of 41 infants were enrolled. After 12 months of treatment, 12 infants (29%) were able to sit without support for at least 5 seconds, a milestone not attained in this disorder. The percentages of infants in whom the key secondary end points were met as compared with the upper boundary of confidence intervals from historical controls were 56% as compared with 17% for a CHOP-INTEND score of 40 or higher, 90% as compared with 17% for an increase of at least 4 points from baseline in the CHOP-INTEND score, 78% as compar

Published
2021

28. The Retina in Patients With Triple A Syndrome: A Window Into Neurodegeneration?

Author

Ulgiati, Fiorenza, Lhoir, Sophie, Balikova, Irina, Tenoutasse, Sylvie, Boros, EMESE, Vilain, Catheline, Heinrichs, Claudine, Brachet, Cécile, Ulgiati, Fiorenza, Lhoir, Sophie, Balikova, Irina, Tenoutasse, Sylvie, Boros, EMESE, Vilain, Catheline, Heinrichs, Claudine, and Brachet, Cécile

Abstract

Objective: Experimental evidence suggests that the clinical manifestations of Triple A syndrome result from oxidative stress. Several conditions caused by oxidative stress display retinal involvement. Our objective was to assess the retina and optic nerve involvement in children with Triple A syndrome. Methods: Eleven patients with genetically proven Triple A syndrome followed-up in our centre were approached for study participation. The main outcome was the measurement of the thicknesses of the different retinal layers by Optical Coherence Tomography (OCT). Results: 9 patients with triple A syndrome had OCT measurements. 7 patients were children and 2 were adults; 4 were females and 5 were males. The 7 paediatric patients had at least two OCT measured at a mean interval of 7.9 months after the first one. The average Retinal Nerve Fibre Layer thickness was 74 ± 10 µm in patients compared to the paediatric reference range of 100 ± 2 µm (p<0.05). Conclusions and Relevance: This is the first study to document retinal layer thicknesses in a series of patients with Triple A syndrome. Nearly all retinal thickness and peripapillary RNFL measurements were very significantly inferior to the reference range in Triple A patients, whatever their age. RNFL thinning was more marked at the temporal part of the optic nerve. OCT being non-invasive, it represents a promising tool to assess the severity of neurodegeneration in patients with Triple A syndrome., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2021

29. CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study

Author

MS Oogheelkunde, Nguyen, Xuan Thanh An, Talib, Mays, van Cauwenbergh, Caroline, van Schooneveld, Mary J., Fiocco, Marta, Wijnholds, Jan, Ten Brink, Jacoline B., Florijn, Ralph J., Schalij-Delfos, Nicoline E., Dagnelie, Gislin, van Genderen, Maria M., de Baere, Elfride, Meester-Smoor, Magda A., De Zaeytijd, Julie, Balikova, Irina, Thiadens, Alberta A., Hoyng, Carel B., Klaver, Caroline C., van den Born, L. Ingeborgh, Bergen, Arthur A., Leroy, Bart P., Boon, Camiel J.F., MS Oogheelkunde, Nguyen, Xuan Thanh An, Talib, Mays, van Cauwenbergh, Caroline, van Schooneveld, Mary J., Fiocco, Marta, Wijnholds, Jan, Ten Brink, Jacoline B., Florijn, Ralph J., Schalij-Delfos, Nicoline E., Dagnelie, Gislin, van Genderen, Maria M., de Baere, Elfride, Meester-Smoor, Magda A., De Zaeytijd, Julie, Balikova, Irina, Thiadens, Alberta A., Hoyng, Carel B., Klaver, Caroline C., van den Born, L. Ingeborgh, Bergen, Arthur A., Leroy, Bart P., and Boon, Camiel J.F.

Published
2021

32. Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16

Author

Balikova, Irina, Martens, Kevin, Melotte, Cindy, Amyere, Mustapha, Vooren, Steven Van, Moreau, Yves, Vetrie, David, Fiegler, Heike, Carter, Nigel P., Liehr, Thomas, Vikkula, Miikka, Matthijs, Gert, Fryns, Jean-Pierre, Casteels, Ingele, Devriendt, Koen, and Vermeesch, Joris Robert

Subjects
Genetic disorders -- Research, Coloboma -- Genetic aspects, Coloboma -- Causes of, Biological sciences
Abstract

A family with a novel autosomal-dominantly inherited syndrome characterized by microtia, eye coloboma, and imperforation of the nasolacrimal duct is presented. It is concluded that it is the first Mendelian inherited genetic disorder associated with the amplification of a copy-number variation (CNV).

Published
2008

33. Three cases of molecularly confirmed Knobloch syndrome

Author

Balikova, Irina, Sanak, Nuri Serdal, Fanny, Depasse, Smits, Guillaume, Soblet, Julie, De Baere, Elfride, Cordonnier, Monique, Balikova, Irina, Sanak, Nuri Serdal, Fanny, Depasse, Smits, Guillaume, Soblet, Julie, De Baere, Elfride, and Cordonnier, Monique

Abstract

Background: Knobloch syndrome (OMIM 267750) is a rare autosomal recessive disorder due to genetic defects in the COL18A1 gene. The triad of high myopia, occipital defect, vitreoretinal degeneration has been described as pathognomonic for this condition. Patients with Knobloch syndrome have also extraocular problems as brain and kidney malformations. High genetic and phenotypic variation has been reported in the affected patients. Materials and Methods: Here we provide detailed clinical description of 3 individuals with Knobloch syndrome. Ocular examination and fundus imaging have been performed. Detailed information about systemic conditions has been provided. Results: Mutations in COL18A1 were identified in all three patients. Patient 1 had congenital hip dislocation and patient 2 had renal atrophy, cardiac insufficiency and difficult skin healing. Conclusions: With this report we add to the clinical and genetic knowledge of this rare condition., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2020

34. Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss and reduced male fertility

Author

Ascari, Giulia, Peelman, Frank, Farinelli, Pietro, Rosseel, Toon, Lambrechts, Nina, Wunderlich, Kirsten A, Wagner, Matias, Nikopoulos, Konstantinos, Martens, Pernille, Balikova, Irina, Derycke, Lara, Holtappels, Gabriële, Krysko, Olga, Van Laethem, Thalia, De Jaegere, Sarah, Guillemyn, Brecht, De Rycke, Riet, De Bleecker, Jan, Creytens, David, Van Dorpe, Jo, Gerris, Jan, Bachert, Claus, Neuhofer, Christiane, Walraedt, Sophie, Bischoff, Almut, Pedersen, Lotte B., Klopstock, Thomas, Rivolta, Carlo, Leroy, Bart P, De Baere, Elfride, Coppieters, Frauke, Ascari, Giulia, Peelman, Frank, Farinelli, Pietro, Rosseel, Toon, Lambrechts, Nina, Wunderlich, Kirsten A, Wagner, Matias, Nikopoulos, Konstantinos, Martens, Pernille, Balikova, Irina, Derycke, Lara, Holtappels, Gabriële, Krysko, Olga, Van Laethem, Thalia, De Jaegere, Sarah, Guillemyn, Brecht, De Rycke, Riet, De Bleecker, Jan, Creytens, David, Van Dorpe, Jo, Gerris, Jan, Bachert, Claus, Neuhofer, Christiane, Walraedt, Sophie, Bischoff, Almut, Pedersen, Lotte B., Klopstock, Thomas, Rivolta, Carlo, Leroy, Bart P, De Baere, Elfride, and Coppieters, Frauke

Abstract

Inactivating variants in the centrosomal CEP78 gene have been found in cone-rod dystrophy with hearing loss (CRDHL), a particular phenotype distinct from Usher syndrome. Here, we identified and functionally characterized the first CEP78 missense variant c.449T>C, p.(Leu150Ser) in three CRDHL families. The variant was found in a biallelic state in two Belgian families and in a compound heterozygous state - in trans with c.1462-1G>T - in a third German family. Haplotype reconstruction showed a founder effect. Homology modeling revealed a detrimental effect of p.(Leu150Ser) on protein stability, which was corroborated in patients' fibroblasts. Elongated primary cilia without clear ultrastructural abnormalities in sperm or nasal brushes suggests impaired cilia assembly. Two affected males from different families displayed sperm abnormalities causing infertility. One of these is a heterozygous carrier of a complex allele in SPAG17, a ciliary gene previously associated with autosomal recessive male infertility. Taken together, our data indicate that a missense founder allele in CEP78 underlies the same sensorineural CRDHL phenotype previously associated with inactivating variants. Interestingly, the CEP78 phenotype has been possibly expanded with male infertility. Finally, CEP78 loss-of-function variants may have an underestimated role in misdiagnosed Usher syndrome, with or without sperm abnormalities. This article is protected by copyright. All rights reserved.

Published
2020

35. The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome

Author

El Chehadeh-Djebbar, Salima, Faivre, Laurence, Moncla, Anne, Aral, Bernard, Missirian, Chantal, Popovici, Cornel, Rump, Patrick, Van Essen, Anthonie, Frances, Anne-Marie, Gigot, Nadège, Cusin, Veronica, Masurel-Paulet, Alice, Gueneau, Lucie, Payet, Muriel, Ragon, Clémence, Marle, Nathalie, Mosca-Boidron, Anne-Laure, Huet, Frédéric, Balikova, Irina, Teyssier, Jean-Raymond, Mugneret, Francine, Thauvin-Robinet, Christel, and Callier, Patrick

Published
2011
Full Text
View/download PDF

37. CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA

Author

Nguyen, Xuan-Thanh-An, primary, Talib, Mays, additional, van Cauwenbergh, Caroline, additional, van Schooneveld, Mary J., additional, Fiocco, Marta, additional, Wijnholds, Jan, additional, ten Brink, Jacoline B., additional, Florijn, Ralph J., additional, Schalij-Delfos, Nicoline E., additional, Dagnelie, Gislin, additional, van Genderen, Maria M., additional, de Baere, Elfride, additional, Meester-Smoor, Magda A., additional, De Zaeytijd, Julie, additional, Balikova, Irina, additional, Thiadens, Alberta A., additional, Hoyng, Carel B., additional, Klaver, Caroline C., additional, van den Born, L. Ingeborgh, additional, Bergen, Arthur A., additional, Leroy, Bart P., additional, and Boon, Camiel J.F., additional

Published
2020
Full Text
View/download PDF

38. Functional characterization of the first missense variant in CEP78 , a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility

Author

Ascari, Giulia, primary, Peelman, Frank, additional, Farinelli, Pietro, additional, Rosseel, Toon, additional, Lambrechts, Nina, additional, Wunderlich, Kirsten A., additional, Wagner, Matias, additional, Nikopoulos, Konstantinos, additional, Martens, Pernille, additional, Balikova, Irina, additional, Derycke, Lara, additional, Holtappels, Gabriële, additional, Krysko, Olga, additional, Van Laethem, Thalia, additional, De Jaegere, Sarah, additional, Guillemyn, Brecht, additional, De Rycke, Riet, additional, De Bleecker, Jan, additional, Creytens, David, additional, Van Dorpe, Jo, additional, Gerris, Jan, additional, Bachert, Claus, additional, Neuhofer, Christiane, additional, Walraedt, Sophie, additional, Bischoff, Almut, additional, Pedersen, Lotte B., additional, Klopstock, Thomas, additional, Rivolta, Carlo, additional, Leroy, Bart P., additional, De Baere, Elfride, additional, and Coppieters, Frauke, additional

Published
2020
Full Text
View/download PDF

42. Subtelomeric Imbalances in Phenotypically Normal Individuals†

Author

Balikova, Irina, Menten, Björn, de Ravel, Thomy, Le Caignec, Cédric, Thienpont, Bernard, Urbina, Montse, Doco-Fenzy, Martine, de Rademaeker, Marjan, Mortier, Geert, Kooy, Frank, van Den Ende, Janneke, Devriendt, Koen, Fryns, Jean-Pierre, Speleman, Frank, and Vermeesch, Joris Robert

Published
2007
Full Text
View/download PDF

43. ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.

Author

UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, Bauwens, Miriam, Garanto, Alejandro, Sangermano, Riccardo, Naessens, Sarah, Weisschuh, Nicole, De Zaeytijd, Julie, Khan, Mubeen, Sadler, Françoise, Balikova, Irina, Van Cauwenbergh, Caroline, Rosseel, Toon, Bauwens, Jim, De Leeneer, Kim, De Jaegere, Sarah, Van Laethem, Thalia, De Vries, Meindert, Carss, Keren, Arno, Gavin, Fakin, Ana, Webster, Andrew R, de Ravel de l'Argentière, Thomy J L, Sznajer, Yves, Vuylsteke, Marnik, Kohl, Susanne, Wissinger, Bernd, Cherry, Timothy, Collin, Rob W J, Cremers, Frans P M, Leroy, Bart P, De Baere, Elfride, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, Bauwens, Miriam, Garanto, Alejandro, Sangermano, Riccardo, Naessens, Sarah, Weisschuh, Nicole, De Zaeytijd, Julie, Khan, Mubeen, Sadler, Françoise, Balikova, Irina, Van Cauwenbergh, Caroline, Rosseel, Toon, Bauwens, Jim, De Leeneer, Kim, De Jaegere, Sarah, Van Laethem, Thalia, De Vries, Meindert, Carss, Keren, Arno, Gavin, Fakin, Ana, Webster, Andrew R, de Ravel de l'Argentière, Thomy J L, Sznajer, Yves, Vuylsteke, Marnik, Kohl, Susanne, Wissinger, Bernd, Cherry, Timothy, Collin, Rob W J, Cremers, Frans P M, Leroy, Bart P, and De Baere, Elfride

Abstract

PURPOSE: ABCA4-associated disease, a recessive retinal dystrophy, is hallmarked by a large proportion of patients with only one pathogenic ABCA4 variant, suggestive for missing heritability. METHODS: By locus-specific analysis of ABCA4, combined with extensive functional studies, we aimed to unravel the missing alleles in a cohort of 67 patients (p), with one (p = 64) or no (p = 3) identified coding pathogenic variants of ABCA4. RESULTS: We identified eight pathogenic (deep-)intronic ABCA4 splice variants, of which five are novel and six structural variants, four of which are novel, including two duplications. Together, these variants account for the missing alleles in 40.3% of patients. Furthermore, two novel variants with a putative cis-regulatory effect were identified. The common hypomorphic variant c.5603A>T p.(Asn1868Ile) was found as a candidate second allele in 43.3% of patients. Overall, we have elucidated the missing heritability in 83.6% of our cohort. In addition, we successfully rescued three deep-intronic variants using antisense oligonucleotide (AON)-mediated treatment in HEK 293-T cells and in patient-derived fibroblast cells. CONCLUSION: Noncoding pathogenic variants, novel structural variants, and a common hypomorphic allele of the ABCA4 gene explain the majority of unsolved cases with ABCA4-associated disease, rendering this retinopathy a model for missing heritability in autosomal recessive disorders.

Published
2019

44. Genetic biomarkers in the VEGF pathway predicting response to anti-VEGF therapy in age-related macular degeneration

Author

Balikova, Irina, Postelmans, Laurence, Pasteels, Brigitte, Coquelet, Pascale, Catherine, Janet, Efendic, Azra, Hosoda, Yoshikatsu, Miyake, Masahiro, Yamashiro, Kenji, Thienpont, Bernard, Lambrechts, Diether, Balikova, Irina, Postelmans, Laurence, Pasteels, Brigitte, Coquelet, Pascale, Catherine, Janet, Efendic, Azra, Hosoda, Yoshikatsu, Miyake, Masahiro, Yamashiro, Kenji, Thienpont, Bernard, and Lambrechts, Diether

Abstract

Objective Age-related macular degeneration (ARMD) is a leading cause of visual impairment. Intravitreal injections of anti-vascular endothelial growth factor (VEGF) are the standard treatment for wet ARMD. There is however, variability in patient responses, suggesting patient-specific factors influencing drug efficacy. We tested whether single nucleotide polymorphisms (SNPs) in genes encoding VEGF pathway members contribute to therapy response. Methods and analysis A retrospective cohort of 281 European wet ARMD patients treated with anti-VEGF was genotyped for 138 tagging SNPs in the VEGF pathway. Per patient, we collected best corrected visual acuity at baseline, after three loading injections and at 12 months. We also registered the injection number and changes in retinal morphology after three loading injections (central foveal thickness (CFT), intraretinal cysts and serous neuroepithelium detachment). Changes in CFT after 3 months were our primary outcome measure. Association of SNPs to response was assessed by binomial logistic regression. Replication was attempted by associating visual acuity changes to genotypes in an independent Japanese cohort. Results Association with treatment response was detected for seven SNPs, including in FLT4 (rs55667289: OR=0.746, 95% CI 0.63 to 0.88, p=0.0005) and KDR (rs7691507: OR=1.056, 95% CI 1.02 to 1.10, p=0.005; and rs2305945: OR=0.963, 95% CI 0.93 to 1.00, p=0.0472). Only association with rs55667289 in FLT4 survived multiple testing correction. This SNP was unavailable for testing in the replication cohort. Of six SNPs tested for replication, one was significant although not after multiple testing correction. Conclusion Identifying genetic variants that define treatment response can help to develop individualised therapeutic approaches for wet ARMD patients and may point towards new targets in non-responders., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2019

45. Truncating RAX mutations: anophthalmia, hypopituitarism, diabetes insipidus and cleft palate in mice and men.

Author

Brachet, Cécile, Kozhemyakina, E, Boros, EMESE, Heinrichs, Claudine, Balikova, Irina, Soblet, Julie, Smits, Guillaume, Vilain, Catheline, Mathers, P H, Brachet, Cécile, Kozhemyakina, E, Boros, EMESE, Heinrichs, Claudine, Balikova, Irina, Soblet, Julie, Smits, Guillaume, Vilain, Catheline, and Mathers, P H

Abstract

The transcription factor RAX is a paired-type homeoprotein that plays a critical role in eye and forebrain development of vertebrate species. RAX knockout mice have anophthalmia, cleft palate, abnormal hypothalamus, and display perinatal lethality. In humans, homozygous or compound heterozygous RAX mutations are reported to cause bilateral micro/anophthalmia without consistent associated features.Congenital Hypopituitarism can be associated with various eye or craniofacial anomalies but the co-occurrence of Congenital Hypopituitarism, anophthalmia, cleft palate and diabetes insipidus is very rare., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2019

46. Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F ‐mediated inherited retinal disorders

Author

Zeitz, Christina, primary, Michiels, Christelle, additional, Neuillé, Marion, additional, Friedburg, Christoph, additional, Condroyer, Christel, additional, Boyard, Fiona, additional, Antonio, Aline, additional, Bouzidi, Nassima, additional, Milicevic, Diana, additional, Veaux, Robin, additional, Tourville, Aurore, additional, Zoumba, Axelle, additional, Seneina, Imene, additional, Foussard, Marine, additional, Andrieu, Camille, additional, N. Preising, Markus, additional, Blanchard, Steven, additional, Saraiva, Jean‐Paul, additional, Mesrob, Lilia, additional, Le Floch, Edith, additional, Jubin, Claire, additional, Meyer, Vincent, additional, Blanché, Hélène, additional, Boland, Anne, additional, Deleuze, Jean‐François, additional, Sharon, Dror, additional, Drumare, Isabelle, additional, Defoort‐Dhellemmes, Sabine, additional, Baere, Elfride, additional, Leroy, Bart P., additional, Zanlonghi, Xavier, additional, Casteels, Ingele, additional, Ravel, Thomy J., additional, Balikova, Irina, additional, Koenekoop, Rob K., additional, Laffargue, Fanny, additional, McLean, Rebecca, additional, Gottlob, Irene, additional, Bonneau, Dominique, additional, Schorderet, Daniel F., additional, L. Munier, Francis, additional, McKibbin, Martin, additional, Prescott, Katrina, additional, Pelletier, Valerie, additional, Dollfus, Hélène, additional, Perdomo‐Trujillo, Yaumara, additional, Faure, Céline, additional, Reiff, Charlotte, additional, Wissinger, Bernd, additional, Meunier, Isabelle, additional, Kohl, Susanne, additional, Banin, Eyal, additional, Zrenner, Eberhart, additional, Jurklies, Bernhard, additional, Lorenz, Birgit, additional, Sahel, José‐Alain, additional, and Audo, Isabelle, additional

Published
2019
Full Text
View/download PDF

48. Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect

Author

Cideciyan, Artur V., primary, Jacobson, Samuel G., additional, Drack, Arlene V., additional, Ho, Allen C., additional, Charng, Jason, additional, Garafalo, Alexandra V., additional, Roman, Alejandro J., additional, Sumaroka, Alexander, additional, Han, Ian C., additional, Hochstedler, Maria D., additional, Pfeifer, Wanda L., additional, Sohn, Elliott H., additional, Taiel, Magali, additional, Schwartz, Michael R., additional, Biasutto, Patricia, additional, Wit, Wilma de, additional, Cheetham, Michael E., additional, Adamson, Peter, additional, Rodman, David M., additional, Platenburg, Gerard, additional, Tome, Maria D., additional, Balikova, Irina, additional, Nerinckx, Fanny, additional, Zaeytijd, Julie De, additional, Van Cauwenbergh, Caroline, additional, Leroy, Bart P., additional, and Russell, Stephen R., additional

Published
2018
Full Text
View/download PDF

50. No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.

Author

Schlögel, Matthieu J, Mendola, Antonella, Fastré, Elodie, Vasudevan, Pradeep, Devriendt, Koen, de Ravel, Thomy Jl, Van Esch, Hilde, Casteels, Ingele, Arroyo Carrera, Ignacio, Cristofoli, Francesca, Fieggen, Karen, Jones, Katheryn, Lipson, Mark, Balikova, Irina, Singer, Ami, Soller, Maria, Mercedes Villanueva, María, Revencu, Nicole, Boon, Laurence M, Brouillard, Pascal, Vikkula, Miikka, Schlögel, Matthieu J, Mendola, Antonella, Fastré, Elodie, Vasudevan, Pradeep, Devriendt, Koen, de Ravel, Thomy Jl, Van Esch, Hilde, Casteels, Ingele, Arroyo Carrera, Ignacio, Cristofoli, Francesca, Fieggen, Karen, Jones, Katheryn, Lipson, Mark, Balikova, Irina, Singer, Ami, Soller, Maria, Mercedes Villanueva, María, Revencu, Nicole, Boon, Laurence M, Brouillard, Pascal, and Vikkula, Miikka

Abstract

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable expressivity. It is characterized by mild-to-severe microcephaly, often associated with intellectual disability, ocular defects and lymphedema. It can be sporadic or inherited. Eighty-seven patients have been described to carry a mutation in KIF11, which encodes a homotetrameric motor kinesin, EG5.

Published
2015

Catalog

Books, media, physical & digital resources
See catalog results