Search

Your search keyword '"Terhal, Paulien A."' showing total 300 results
Start Over Author "Terhal, Paulien A."
300 results on '"Terhal, Paulien A."'

1. The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.

Author

van Bon, Bregje, Brooks, Alice, Guan, Qiaoning, Klee, Eric, Marcelis, Carlo, Rosado, Joel, Schimmenti, Lisa, Shikany, Amy, Terhal, Paulien, Nicole Weaver, Kathryn, Wessels, Marja, van Wieringen, Hester, Hurst, Anna, Gooch, Catherine, Steindl, Katharina, Joset, Pascal, Rauch, Anita, Tartaglia, Marco, Niceta, Marcello, Elgersma, Ype, Demirdas, Serwet, van Woerden, Geeske, Senden, Richelle, de Konink, Charlotte, Trezza, Rossella, Baban, Anwar, Bassetti, Jennifer, van Bever, Yolande, and Bird, Lynne

Subjects
MAP3K7, Noonan syndrome, cardiospondylocarpofacial syndrome, frontometaphyseal dysplasia type 2, Abnormalities, Multiple, Genotype, Hearing Loss, Bilateral, Humans, Mitral Valve Insufficiency, Mutation, Noonan Syndrome, Osteosclerosis, Phenotype
Abstract

Mitogen-activated protein 3 kinase 7 (MAP3K7) encodes the ubiquitously expressed transforming growth factor β-activated kinase 1, which plays a crucial role in many cellular processes. Mutationsin the MAP3K7 gene have been linked to two distinct disorders: frontometaphyseal dysplasia type 2 (FMD2) and cardiospondylocarpofacial syndrome (CSCF). The fact that different mutations can induce two distinct phenotypes suggests a phenotype/genotype correlation, but no side-by-side comparison has been done thus far to confirm this. Here, we significantly expand the cohort and the description of clinical phenotypes for patients with CSCF and FMD2 who carry mutations in MAP3K7. Our findings support that in contrast to FMD2-causing mutations, CSCF-causing mutations in MAP3K7 have a loss-of-function effect. Additionally, patients with pathogenic mutations in MAP3K7 are at risk for (severe) cardiac disease, have symptoms associated with connective tissue disease, and we show overlap in clinical phenotypes of CSCF with Noonan syndrome (NS). Together, we confirm a molecular fingerprint of FMD2- versus CSCF-causing MAP3K7 mutations and conclude that mutations in MAP3K7 should be considered in the differential diagnosis of patients with syndromic congenital cardiac defects and/or cardiomyopathy, syndromic connective tissue disorders, and in the differential diagnosis of NS.

Published
2022

2. Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis

Author

Arts, Rob J.W., Bijker, Else M., Bruno, Mariolina, Hobo, Willemijn, Hoppenreijs, Esther, de Jonge, Marien I., van Laarhoven, Arjan, van der Molen, Renate, Oud, Manon, Schatorje, Ellen J.H., Smeets, Ruben, Sprenkeler, Evelien G.G., Stol, Kim, Verhagen, Lilly M., Zonneveld-Huijssoon, Evelien, Vorsteveld, Emil E., Van der Made, Caspar I., Smeekens, Sanne P., Schuurs-Hoeijmakers, Janneke H., Astuti, Galuh, Diepstra, Heleen, Gilissen, Christian, Hoenselaar, Evelien, Janssen, Alice, van Roozendaal, Kees, Engelen, Jettie Sikkema-van, Steyaert, Wouter, Weiss, Marjan M., Yntema, Helger G., Mantere, Tuomo, AlZahrani, Mofareh S., van Aerde, Koen, Derfalvi, Beata, Faqeih, Eissa Ali, Henriet, Stefanie S.V., van Hoof, Elise, Idressi, Eman, Issekutz, Thomas B., Jongmans, Marjolijn C.J., Keski-Filppula, Riikka, Krapels, Ingrid, te Loo, Maroeska, Mulders-Manders, Catharina M., ten Oever, Jaap, Potjewijd, Judith, Sarhan, Nora Tarig, Slot, Marjan C., Terhal, Paulien A., Thijs, Herman, Vandersteen, Anthony, Vanhoutte, Els K., van de Veerdonk, Frank, van Well, Gijs, Netea, Mihai G., Simons, Annet, and Hoischen, Alexander

Published
2024
Full Text
View/download PDF

3. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

Author

Angius, Andrea, Baker, Janice A., Bedoukian, Emma, Bhambhani, Vikas, Bodamer, Olaf, O’Brien, Alan, Clayton-Smith, Jill, Crisponi, Laura, Cueto González, Anna María, the DDD study, Devriendt, Koenraad, Garrido, Elena Dominguez, Ehmke, Nadja, van Eerde, Albertien, van den Elzen, Annette P.M., Faivre, Laurence, Fisher, Laura, Flores-Daboub, Josue A., Foster, Alison, Friedman, Jennifer, Gabau, Elisabeth, Galazzi, Elena, García-Miñaúr, Sixto, Garavelli, Livia, Gardeitchik, Thatjana, Gerkes, Erica H., van Gils, Julien, Giltay, Jacques C., Garcia, Aixa Gonzalez, Heimdal, Ketil Riddervold, Horn, Denise, Houge, Gunnar, Hufnagel, Sophia B., Ilencikova, Denisa, Julia, Sophie, Kant, Sarina G., Kinning, Esther, Klee, Eric W., Kois, Chelsea, Kovačević, Maja, Lachmeijer, A.M.A. (Guus), Lanpher, Brendan, Lebrun, Marine, Leon, Eyby, Lichty, Angie Ward, Lin, Ruth, Llano-Rivas, Isabel, Lynch, Sally Ann, Maas, Saskia M., Maitz, Silvia B., McKee, Shane, Melis, Daniela, Merati, Elisabetta, Merla, Giuseppe, Newbury-Ecob, Ruth, Nizon, Mathilde, Park, Soo-Mi, Patterson, Jennifer, Petit, Florence, Peeters, Hilde, Persani, Luca, Persico, Ivana, Pes, Valentina, Pollazzon, Marzia, Potjer, Thomas, Potocki, Lorraine, Pottinger, Carrie, Prasad, Chitra, Prijoles, Eloise J., Ragge, Nicola K., Rake, Jan Peter, van Ravenswaaij-Arts, Conny M.A., Rea, Gillian, Ruivenkamp, Claudia, Rutz, Audrey, Saitta, Sulagna C., Russo, Rossana Sanchez, Santen, Gijs W.E., Schaefer, Elise, Shashi, Vandana, Schultz-Rogers, Laura, Sluga, Andrea, Sotgiu, Stefano, Steichen-Gersdorf, Elisabeth, Sullivan, Jennifer A., Sun, Yu, Suri, Mohnish, Tartaglia, Marco, Tedder, Matt, Terhal, Paulien, Tully, Ian, Verbeek, Nienke, Wenzel, Maren, White, Susan M., Xiao, Bing, Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Levy, Michael A., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A., Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F., Hurst, Anna C.E., Kaiser, Frank J., Lacombe, Didier, Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Santos-Simarro, Fernando, Simpson, Brittany N., Alders, Mariëlle, Robertson, Stephen P., Sadikovic, Bekim, and Menke, Leonie A.

Published
2024
Full Text
View/download PDF

4. AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia

Author

Terhal, Paulien, Venhuizen, Anton J., Lessel, Davor, Tan, Wen-Hann, Alswaid, Abdulrahman, Grün, Regina, Alzaidan, Hamad I., von Kroge, Simon, Ragab, Nada, Hempel, Maja, Kubisch, Christian, Novais, Eduardo, Cristobal, Alba, Tripolszki, Kornelia, Bauer, Peter, Fischer-Zirnsak, Björn, Nievelstein, Rutger A.J., van Dijk, Atty, Nikkels, Peter, Oheim, Ralf, Hahn, Heidi, Bertoli-Avella, Aida, Maurice, Madelon M., and Kornak, Uwe

Published
2023
Full Text
View/download PDF

5. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Author

Reijnders, Margot RF, Miller, Kerry A, Alvi, Mohsan, Goos, Jacqueline AC, Lees, Melissa M, de Burca, Anna, Henderson, Alex, Kraus, Alison, Mikat, Barbara, de Vries, Bert BA, Isidor, Bertrand, Kerr, Bronwyn, Marcelis, Carlo, Schluth-Bolard, Caroline, Deshpande, Charu, Ruivenkamp, Claudia AL, Wieczorek, Dagmar, Study, The Deciphering Developmental Disorders, Baralle, Diana, Blair, Edward M, Engels, Hartmut, Lüdecke, Hermann-Josef, Eason, Jacqueline, Santen, Gijs WE, Clayton-Smith, Jill, Chandler, Kate, Tatton-Brown, Katrina, Payne, Katelyn, Helbig, Katherine, Radtke, Kelly, Nugent, Kimberly M, Cremer, Kirsten, Strom, Tim M, Bird, Lynne M, Sinnema, Margje, Bitner-Glindzicz, Maria, van Dooren, Marieke F, Alders, Marielle, Koopmans, Marije, Brick, Lauren, Kozenko, Mariya, Harline, Megan L, Klaassens, Merel, Steinraths, Michelle, Cooper, Nicola S, Edery, Patrick, Yap, Patrick, Terhal, Paulien A, van der Spek, Peter J, Lakeman, Phillis, Taylor, Rachel L, Littlejohn, Rebecca O, Pfundt, Rolph, Mercimek-Andrews, Saadet, Stegmann, Alexander PA, Kant, Sarina G, McLean, Scott, Joss, Shelagh, Swagemakers, Sigrid MA, Douzgou, Sofia, Wall, Steven A, Küry, Sébastien, Calpena, Eduardo, Koelling, Nils, McGowan, Simon J, Twigg, Stephen RF, Mathijssen, Irene MJ, Nellaker, Christoffer, Brunner, Han G, and Wilkie, Andrew OM

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Biotechnology, Brain Disorders, Human Genome, Neurosciences, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Base Sequence, Cell Line, Child, Child, Preschool, Facies, Female, Genetic Association Studies, Humans, Infant, Inheritance Patterns, Loss of Function Mutation, Male, Neurodevelopmental Disorders, Protein Kinases, RNA, Messenger, Translocation, Genetic, Young Adult, Deciphering Developmental Disorders Study, Tousled-like, facial averaging, haploinsufficiency, intellectual disability, kinase, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we report the identification of a distinct syndrome due to de novo or inherited heterozygous mutations in Tousled-like kinase 2 (TLK2) in 38 unrelated individuals and two affected mothers, using whole-exome and whole-genome sequencing technologies, matchmaker databases, and international collaborations. Affected individuals had a consistent phenotype, characterized by mild-borderline neurodevelopmental delay (86%), behavioral disorders (68%), severe gastro-intestinal problems (63%), and facial dysmorphism including blepharophimosis (82%), telecanthus (74%), prominent nasal bridge (68%), broad nasal tip (66%), thin vermilion of the upper lip (62%), and upslanting palpebral fissures (55%). Analysis of cell lines from three affected individuals showed that mutations act through a loss-of-function mechanism in at least two case subjects. Genotype-phenotype analysis and comparison of computationally modeled faces showed that phenotypes of these and other individuals with loss-of-function variants significantly overlapped with phenotypes of individuals with other variant types (missense and C-terminal truncating). This suggests that haploinsufficiency of TLK2 is the most likely underlying disease mechanism, leading to a consistent neurodevelopmental phenotype. This work illustrates the power of international data sharing, by the identification of 40 individuals from 26 different centers in 7 different countries, allowing the identification, clinical delineation, and genotype-phenotype evaluation of a distinct NDD caused by mutations in TLK2.

Published
2018

6. TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility

Author

Engwerda, Aafke, Leenders, Erika K. S. M., Frentz, Barbara, Terhal, Paulien A., Löhner, Katharina, de Vries, Bert B. A., Dijkhuizen, Trijnie, Vos, Yvonne J., Rinne, Tuula, van den Berg, Maarten P., Roofthooft, Marc T. R., Deelen, Patrick, van Ravenswaaij-Arts, Conny M. A., and Kerstjens-Frederikse, Wilhelmina S.

Published
2021
Full Text
View/download PDF

7. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Author

Küry, Sébastien, van Woerden, Geeske M, Besnard, Thomas, Onori, Martina Proietti, Latypova, Xénia, Towne, Meghan C, Cho, Megan T, Prescott, Trine E, Ploeg, Melissa A, Sanders, Stephan, Stessman, Holly AF, Pujol, Aurora, Distel, Ben, Robak, Laurie A, Bernstein, Jonathan A, Denommé-Pichon, Anne-Sophie, Lesca, Gaëtan, Sellars, Elizabeth A, Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind Løvold, van Bon, Bregje WM, Waugh, Jeff L, Deardorff, Matthew, Hoganson, George E, Bosanko, Katherine B, Johnson, Diana S, Dabir, Tabib, Holla, Øystein Lunde, Sarkar, Ajoy, Tveten, Kristian, de Bellescize, Julitta, Braathen, Geir J, Terhal, Paulien A, Grange, Dorothy K, van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth J, Douglas, Jessica, Santani, Avni B, Nesbitt, Addie I, Helbig, Katherine L, Andrews, Marisa V, Begtrup, Amber, Tang, Sha, van Gassen, Koen LI, Juusola, Jane, Foss, Kimberly, Enns, Gregory M, Moog, Ute, Hinderhofer, Katrin, Paramasivam, Nagarajan, Lincoln, Sharyn, Kusako, Brandon H, Lindenbaum, Pierre, Charpentier, Eric, Nowak, Catherine B, Cherot, Elouan, Simonet, Thomas, Ruivenkamp, Claudia AL, Hahn, Sihoun, Brownstein, Catherine A, Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Quinquis, Delphine, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon R, Thies, Jenny, Peart-Vissers, Lisenka ELM, Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas M, Dubourg, Christèle, Network, Undiagnosed Diseases, Tan, Wen-Hann, Verbeek, Nienke E, Granzow, Martin, Santen, Gijs WE, Shendure, Jay, Isidor, Bertrand, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew W, Kleefstra, Tjitske, Cogné, Benjamin, HUGO, GEM, Study, Deciphering Developmental Disorders, Petrovski, Slavé, and Retterer, Kyle

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Neurosciences, Brain Disorders, Genetics, Intellectual and Developmental Disabilities (IDD), Pediatric, Underpinning research, 1.1 Normal biological development and functioning, Aetiology, 2.1 Biological and endogenous factors, Neurological, Animals, Brain, Calcium-Calmodulin-Dependent Protein Kinase Type 2, Cell Line, Exome, Female, Glutamic Acid, HEK293 Cells, Humans, Intellectual Disability, Male, Mice, Mice, Inbred C57BL, Mutation, Neurons, Phosphorylation, Signal Transduction, Undiagnosed Diseases Network, GEM HUGO, Deciphering Developmental Disorders Study, AMPAR, CAMK2, CAMK2A, CAMK2B, NMDAR, de novo mutations, intellectual disability, synaptic plasticity, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Calcium/calmodulin-dependent protein kinase II (CAMK2) is one of the first proteins shown to be essential for normal learning and synaptic plasticity in mice, but its requirement for human brain development has not yet been established. Through a multi-center collaborative study based on a whole-exome sequencing approach, we identified 19 exceedingly rare de novo CAMK2A or CAMK2B variants in 24 unrelated individuals with intellectual disability. Variants were assessed for their effect on CAMK2 function and on neuronal migration. For both CAMK2A and CAMK2B, we identified mutations that decreased or increased CAMK2 auto-phosphorylation at Thr286/Thr287. We further found that all mutations affecting auto-phosphorylation also affected neuronal migration, highlighting the importance of tightly regulated CAMK2 auto-phosphorylation in neuronal function and neurodevelopment. Our data establish the importance of CAMK2A and CAMK2B and their auto-phosphorylation in human brain function and expand the phenotypic spectrum of the disorders caused by variants in key players of the glutamatergic signaling pathway.

Published
2017

8. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Author

Kummeling, Joost, Stremmelaar, Diante E., Raun, Nicholas, Reijnders, Margot R. F., Willemsen, Marjolein H., Ruiterkamp-Versteeg, Martina, Schepens, Marga, Man, Calvin C. O., Gilissen, Christian, Cho, Megan T., McWalter, Kirsty, Sinnema, Margje, Wheless, James W., Simon, Marleen E. H., Genetti, Casie A., Casey, Alicia M., Terhal, Paulien A., van der Smagt, Jasper J., van Gassen, Koen L. I., Joset, Pascal, Bahr, Angela, Steindl, Katharina, Rauch, Anita, Keller, Elmar, Raas-Rothschild, Annick, Koolen, David A., Agrawal, Pankaj B., Hoffman, Trevor L., Powell-Hamilton, Nina N., Thiffault, Isabelle, Engleman, Kendra, Zhou, Dihong, Bodamer, Olaf, Hoefele, Julia, Riedhammer, Korbinian M., Schwaibold, Eva M. C., Tasic, Velibor, Schubert, Dirk, Top, Deniz, Pfundt, Rolph, Higgs, Martin R., Kramer, Jamie M., and Kleefstra, Tjitske

Published
2021
Full Text
View/download PDF

11. De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Author

Jansen, Sandra, van der Werf, Ilse M., Innes, A. Micheil, Afenjar, Alexandra, Agrawal, Pankaj B., Anderson, Ilse J., Atwal, Paldeep S., van Binsbergen, Ellen, van den Boogaard, Marie-José, Castiglia, Lucia, Coban-Akdemir, Zeynep H., van Dijck, Anke, Doummar, Diane, van Eerde, Albertien M., van Essen, Anthonie J., van Gassen, Koen L., Guillen Sacoto, Maria J., van Haelst, Mieke M., Iossifov, Ivan, Jackson, Jessica L., Judd, Elizabeth, Kaiwar, Charu, Keren, Boris, Klee, Eric W., Klein Wassink-Ruiter, Jolien S., Meuwissen, Marije E., Monaghan, Kristin G., de Munnik, Sonja A., Nava, Caroline, Ockeloen, Charlotte W., Pettinato, Rosa, Racher, Hilary, Rinne, Tuula, Romano, Corrado, Sanders, Victoria R., Schnur, Rhonda E., Smeets, Eric J., Stegmann, Alexander P. A., Stray-Pedersen, Asbjørg, Sweetser, David A., Terhal, Paulien A., Tveten, Kristian, VanNoy, Grace E., de Vries, Petra F., Waxler, Jessica L., Willing, Marcia, Pfundt, Rolph, Veltman, Joris A., Kooy, R. Frank, Vissers, Lisenka E. L. M., and de Vries, Bert B. A.

Published
2019
Full Text
View/download PDF

12. De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

Author

Snijders Blok, Lot, Hiatt, Susan M., Bowling, Kevin M., Prokop, Jeremy W., Engel, Krysta L., Cochran, J. Nicholas, Bebin, E. Martina, Bijlsma, Emilia K., Ruivenkamp, Claudia A. L., Terhal, Paulien, Simon, Marleen E. H., Smith, Rosemarie, Hurst, Jane A., The DDD study, McLaughlin, Heather, Person, Richard, Crunk, Amy, Wangler, Michael F., Streff, Haley, Symonds, Joseph D., Zuberi, Sameer M., Elliott, Katherine S., Sanders, Victoria R., Masunga, Abigail, Hopkin, Robert J., Dubbs, Holly A., Ortiz-Gonzalez, Xilma R., Pfundt, Rolph, Brunner, Han G., Fisher, Simon E., Kleefstra, Tjitske, and Cooper, Gregory M.

Published
2018
Full Text
View/download PDF

13. AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia

Author

CMM Groep Maurice, Cancer, DT Schildpad, Integrale & Alg. Kindergen Patientenzorg, Other research (not in main researchprogram), Pathologie Pathologen staf, Regenerative Medicine and Stem Cells, Terhal, Paulien, Venhuizen, Anton J, Lessel, Davor, Tan, Wen-Hann, Alswaid, Abdulrahman, Grün, Regina, Alzaidan, Hamad I, von Kroge, Simon, Ragab, Nada, Hempel, Maja, Kubisch, Christian, Novais, Eduardo, Cristobal, Alba, Tripolszki, Kornelia, Bauer, Peter, Fischer-Zirnsak, Björn, Nievelstein, Rutger A J, van Dijk, Atty, Nikkels, Peter, Oheim, Ralf, Hahn, Heidi, Bertoli-Avella, Aida, Maurice, Madelon M, Kornak, Uwe, CMM Groep Maurice, Cancer, DT Schildpad, Integrale & Alg. Kindergen Patientenzorg, Other research (not in main researchprogram), Pathologie Pathologen staf, Regenerative Medicine and Stem Cells, Terhal, Paulien, Venhuizen, Anton J, Lessel, Davor, Tan, Wen-Hann, Alswaid, Abdulrahman, Grün, Regina, Alzaidan, Hamad I, von Kroge, Simon, Ragab, Nada, Hempel, Maja, Kubisch, Christian, Novais, Eduardo, Cristobal, Alba, Tripolszki, Kornelia, Bauer, Peter, Fischer-Zirnsak, Björn, Nievelstein, Rutger A J, van Dijk, Atty, Nikkels, Peter, Oheim, Ralf, Hahn, Heidi, Bertoli-Avella, Aida, Maurice, Madelon M, and Kornak, Uwe

Published
2023

14. Identification of human D lactate dehydrogenase deficiency

Author

Monroe, Glen R., van Eerde, Albertien M., Tessadori, Federico, Duran, Karen J., Savelberg, Sanne M. C., van Alfen, Johanna C., Terhal, Paulien A., van der Crabben, Saskia N., Lichtenbelt, Klaske D., Fuchs, Sabine A., Gerrits, Johan, van Roosmalen, Markus J., van Gassen, Koen L., van Aalderen, Mirjam, Koot, Bart G., Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J., Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G. M., Knoers, Nine V., Bakkers, Jeroen, Verhoeven-Duif, Nanda M., van Haaften, Gijs, and Jans, Judith J.

Published
2019
Full Text
View/download PDF

15. MissenseMED12variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

Author

Maia, Nuno, primary, Ibarluzea, Nekane, additional, Misra‐Isrie, Mala, additional, Koboldt, Daniel C., additional, Marques, Isabel, additional, Soares, Gabriela, additional, Santos, Rosário, additional, Marcelis, Carlo L. M., additional, Keski‐Filppula, Riikka, additional, Guitart, Miriam, additional, Gabau Vila, Elisabeth, additional, Lehman, April, additional, Hickey, Scott, additional, Mori, Mari, additional, Terhal, Paulien, additional, Valenzuela, Irene, additional, Lasa‐Aranzasti, Amaia, additional, Cueto‐González, Anna Maria, additional, Chhouk, Brian H., additional, Yeh, Rebecca C., additional, Neil, Jennifer E., additional, Abu‐Libde, Bassam, additional, Kleefstra, Tjitske, additional, Elting, Mariet W., additional, Császár, Andrea, additional, Kárteszi, Judit, additional, Bessenyei, Beáta, additional, van Bokhoven, Hans, additional, Jorge, Paula, additional, van Hagen, Johanna M., additional, and de Brouwer, Arjan P. M., additional

Published
2022
Full Text
View/download PDF

16. Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway

Author

Sokoya, Tolulope, primary, Parolek, Jan, primary, Foged, Mads Møller, additional, Danylchuk, Dmytro I, additional, Bozan, Manuel, additional, Sarkar, Bingshati, additional, Hilderink, Angelika, additional, Philippi, Michael, additional, Botto, Lorenzo D, additional, Terhal, Paulien A, additional, Mäkitie, Outi, additional, Piehler, Jacob, additional, Kim, Yeongho, additional, Burd, Christopher G, additional, Klymchenko, Andrey S, additional, Maeda, Kenji, additional, and Holthuis, Joost CM, additional

Published
2022
Full Text
View/download PDF

17. Author response: Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway

Author

Sokoya, Tolulope, primary, Parolek, Jan, primary, Foged, Mads Møller, additional, Danylchuk, Dmytro I, additional, Bozan, Manuel, additional, Sarkar, Bingshati, additional, Hilderink, Angelika, additional, Philippi, Michael, additional, Botto, Lorenzo D, additional, Terhal, Paulien A, additional, Mäkitie, Outi, additional, Piehler, Jacob, additional, Kim, Yeongho, additional, Burd, Christopher G, additional, Klymchenko, Andrey S, additional, Maeda, Kenji, additional, and Holthuis, Joost CM, additional

Published
2022
Full Text
View/download PDF

20. Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

Author

Cuinat, Silvestre, primary, Nizon, Mathilde, additional, Isidor, Bertrand, additional, Stegmann, Alexander, additional, van Jaarsveld, Richard H., additional, van Gassen, Koen L., additional, van der Smagt, Jasper J., additional, Volker-Touw, Catharina M.L., additional, Holwerda, Sjoerd J.B., additional, Terhal, Paulien A., additional, Schuhmann, Sarah, additional, Vasileiou, Georgia, additional, Khalifa, Mohamed, additional, Nugud, Alaa A., additional, Yasaei, Hemad, additional, Ousager, Lilian Bomme, additional, Brasch-Andersen, Charlotte, additional, Deb, Wallid, additional, Besnard, Thomas, additional, Simon, Marleen E.H., additional, Amsterdam, Karin Huijsdens-van, additional, Verbeek, Nienke E., additional, Matalon, Dena, additional, Dykzeul, Natalie, additional, White, Shana, additional, Spiteri, Elizabeth, additional, Devriendt, Koen, additional, Boogaerts, Anneleen, additional, Willemsen, Marjolein, additional, Brunner, Han G., additional, Sinnema, Margje, additional, De Vries, Bert B.A., additional, Gerkes, Erica H., additional, Pfundt, Rolph, additional, Izumi, Kosuke, additional, Krantz, Ian D., additional, Xu, Zhou L., additional, Murrell, Jill R., additional, Valenzuela, Irene, additional, Cusco, Ivon, additional, Rovira-Moreno, Eulàlia, additional, Yang, Yaping, additional, Bizaoui, Varoona, additional, Patat, Olivier, additional, Faivre, Laurence, additional, Tran-Mau-Them, Frederic, additional, Vitobello, Antonio, additional, Denommé-Pichon, Anne-Sophie, additional, Philippe, Christophe, additional, Bezieau, Stéphane, additional, and Cogné, Benjamin, additional

Published
2022
Full Text
View/download PDF

21. TAB2 deletions and loss-of-function variants cause a Noonan-like syndrome with mitral valve disease, cardiomyopathy and hypermobility

Author

Engwerda, Aafke, Leenders, Erika K. S. M., Frentz, Barbara, Terhal, Paulien A., Lohner, Katharina, De Vries, Bert B. A., Dijkhuizen, Trijnie, Vos, Yvonne J., Rinne, Tuula, Van den Berg, Maarten P., Roofthooft, Marc T. R., Deelen, Patrick, van Ravenswaaij-Arts, Conny M. A., Kerstjens-Frederikse, Wilhelmina S., Cardiovascular Centre (CVC), and Clinical Cognitive Neuropsychiatry Research Program (CCNP)

Published
2022

22. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.

Author

UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de malformations vasculaires congénitales, UCL - (SLuc) Centre de génétique médicale UCL, Vegas, Nancy, Demir, Zeynep, Gordon, Christopher T, Breton, Sylvain, Romanelli Tavares, Vanessa L, Moisset, Hugo, Zechi-Ceide, Roseli, Kokitsu-Nakata, Nancy M, Kido, Yasuhiro, Marlin, Sandrine, Gherbi Halem, Souad, Meerschaut, Ilse, Callewaert, Bert, Chung, Brian, Revencu, Nicole, Lehalle, Daphné, Petit, Florence, Propst, Evan J, Papsin, Blake C, Phillips, John H, Jakobsen, Linda, Le Tanno, Pauline, Thévenon, Julien, McGaughran, Julie, Gerkes, Erica H, Leoni, Chiara, Kroisel, Peter, Tan, Tiong Y, Henderson, Alex, Terhal, Paulien, Basel-Salmon, Lina, Alkindy, Adila, White, Susan M, Passos-Bueno, Maria R, Pingault, Véronique, De Pontual, Loïc, Amiel, Jeanne, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de malformations vasculaires congénitales, UCL - (SLuc) Centre de génétique médicale UCL, Vegas, Nancy, Demir, Zeynep, Gordon, Christopher T, Breton, Sylvain, Romanelli Tavares, Vanessa L, Moisset, Hugo, Zechi-Ceide, Roseli, Kokitsu-Nakata, Nancy M, Kido, Yasuhiro, Marlin, Sandrine, Gherbi Halem, Souad, Meerschaut, Ilse, Callewaert, Bert, Chung, Brian, Revencu, Nicole, Lehalle, Daphné, Petit, Florence, Propst, Evan J, Papsin, Blake C, Phillips, John H, Jakobsen, Linda, Le Tanno, Pauline, Thévenon, Julien, McGaughran, Julie, Gerkes, Erica H, Leoni, Chiara, Kroisel, Peter, Tan, Tiong Y, Henderson, Alex, Terhal, Paulien, Basel-Salmon, Lina, Alkindy, Adila, White, Susan M, Passos-Bueno, Maria R, Pingault, Véronique, De Pontual, Loïc, and Amiel, Jeanne

Abstract

Auriculocondylar syndrome (ACS) is a rare craniofacial disorder characterized by mandibular hypoplasia and an auricular defect at the junction between the lobe and helix, known as a "Question Mark Ear" (QME). Several additional features, originating from the first and second branchial arches and other tissues, have also been reported. ACS is genetically heterogeneous with autosomal dominant and recessive modes of inheritance. The mutations identified to date are presumed to dysregulate the endothelin 1 signaling pathway. Here we describe 14 novel cases and reassess 25 published cases of ACS through a questionnaire for systematic data collection. All patients harbor mutation(s) in PLCB4, GNAI3, or EDN1. This series of patients contributes to the characterization of additional features occasionally associated with ACS such as respiratory, costal, neurodevelopmental, and genital anomalies, and provides management and monitoring recommendations.

Published
2022

23. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

Author

Vegas, Nancy, Demir, Zeynep, Gordon, Christopher T., Breton, Sylvain, Romanelli Tavares, Vanessa L., Moisset, Hugo, Zechi-Ceide, Roseli, Kokitsu-Nakata, Nancy M., Kido, Yasuhiro, Marlin, Sandrine, Gherbi Halem, Souad, Meerschaut, Ilse, Callewaert, Bert, Chung, Brian, Revencu, Nicole, Lehalle, Daphné, Petit, Florence, Propst, Evan J., Papsin, Blake C., Phillips, John H., Jakobsen, Linda, Le Tanno, Pauline, Thévenon, Julien, McGaughran, Julie, Gerkes, Erica H., Leoni, Chiara, Kroisel, Peter, Tan, Tiong Y., Henderson, Alex, Terhal, Paulien, Basel-Salmon, Lina, Alkindy, Adila, White, Susan M., Passos-Bueno, Maria R., Pingault, Véronique, De Pontual, Loïc, Amiel, Jeanne, Vegas, Nancy, Demir, Zeynep, Gordon, Christopher T., Breton, Sylvain, Romanelli Tavares, Vanessa L., Moisset, Hugo, Zechi-Ceide, Roseli, Kokitsu-Nakata, Nancy M., Kido, Yasuhiro, Marlin, Sandrine, Gherbi Halem, Souad, Meerschaut, Ilse, Callewaert, Bert, Chung, Brian, Revencu, Nicole, Lehalle, Daphné, Petit, Florence, Propst, Evan J., Papsin, Blake C., Phillips, John H., Jakobsen, Linda, Le Tanno, Pauline, Thévenon, Julien, McGaughran, Julie, Gerkes, Erica H., Leoni, Chiara, Kroisel, Peter, Tan, Tiong Y., Henderson, Alex, Terhal, Paulien, Basel-Salmon, Lina, Alkindy, Adila, White, Susan M., Passos-Bueno, Maria R., Pingault, Véronique, De Pontual, Loïc, and Amiel, Jeanne

Abstract

Auriculocondylar syndrome (ACS) is a rare craniofacial disorder characterized by mandibular hypoplasia and an auricular defect at the junction between the lobe and helix, known as a “Question Mark Ear” (QME). Several additional features, originating from the first and second branchial arches and other tissues, have also been reported. ACS is genetically heterogeneous with autosomal dominant and recessive modes of inheritance. The mutations identified to date are presumed to dysregulate the endothelin 1 signaling pathway. Here we describe 14 novel cases and reassess 25 published cases of ACS through a questionnaire for systematic data collection. All patients harbor mutation(s) in PLCB4, GNAI3, or EDN1. This series of patients contributes to the characterization of additional features occasionally associated with ACS such as respiratory, costal, neurodevelopmental, and genital anomalies, and provides management and monitoring recommendations.

Published
2022

24. Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

Author

Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Circulatory Health, Cuinat, Silvestre, Nizon, Mathilde, Isidor, Bertrand, Stegmann, Alexander, van Jaarsveld, Richard H, van Gassen, Koen L, van der Smagt, Jasper J, Volker-Touw, Catharina M L, Holwerda, Sjoerd J B, Terhal, Paulien A, Schuhmann, Sarah, Vasileiou, Georgia, Khalifa, Mohamed, Nugud, Alaa A, Yasaei, Hemad, Ousager, Lilian Bomme, Brasch-Andersen, Charlotte, Deb, Wallid, Besnard, Thomas, Simon, Marleen E H, Amsterdam, Karin Huijsdens-van, Verbeek, Nienke E, Matalon, Dena, Dykzeul, Natalie, White, Shana, Spiteri, Elizabeth, Devriendt, Koen, Boogaerts, Anneleen, Willemsen, Marjolein, Brunner, Han G, Sinnema, Margje, De Vries, Bert B A, Gerkes, Erica H, Pfundt, Rolph, Izumi, Kosuke, Krantz, Ian D, Xu, Zhou L, Murrell, Jill R, Valenzuela, Irene, Cusco, Ivon, Rovira-Moreno, Eulàlia, Yang, Yaping, Bizaoui, Varoona, Patat, Olivier, Faivre, Laurence, Tran-Mau-Them, Frederic, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Philippe, Christophe, Bezieau, Stéphane, Cogné, Benjamin, Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Circulatory Health, Cuinat, Silvestre, Nizon, Mathilde, Isidor, Bertrand, Stegmann, Alexander, van Jaarsveld, Richard H, van Gassen, Koen L, van der Smagt, Jasper J, Volker-Touw, Catharina M L, Holwerda, Sjoerd J B, Terhal, Paulien A, Schuhmann, Sarah, Vasileiou, Georgia, Khalifa, Mohamed, Nugud, Alaa A, Yasaei, Hemad, Ousager, Lilian Bomme, Brasch-Andersen, Charlotte, Deb, Wallid, Besnard, Thomas, Simon, Marleen E H, Amsterdam, Karin Huijsdens-van, Verbeek, Nienke E, Matalon, Dena, Dykzeul, Natalie, White, Shana, Spiteri, Elizabeth, Devriendt, Koen, Boogaerts, Anneleen, Willemsen, Marjolein, Brunner, Han G, Sinnema, Margje, De Vries, Bert B A, Gerkes, Erica H, Pfundt, Rolph, Izumi, Kosuke, Krantz, Ian D, Xu, Zhou L, Murrell, Jill R, Valenzuela, Irene, Cusco, Ivon, Rovira-Moreno, Eulàlia, Yang, Yaping, Bizaoui, Varoona, Patat, Olivier, Faivre, Laurence, Tran-Mau-Them, Frederic, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Philippe, Christophe, Bezieau, Stéphane, and Cogné, Benjamin

Published
2022

25. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

Author

Genetica Klinische Genetica, Child Health, Vegas, Nancy, Demir, Zeynep, Gordon, Christopher T, Breton, Sylvain, Romanelli Tavares, Vanessa L, Moisset, Hugo, Zechi-Ceide, Roseli, Kokitsu-Nakata, Nancy M, Kido, Yasuhiro, Marlin, Sandrine, Gherbi Halem, Souad, Meerschaut, Ilse, Callewaert, Bert, Chung, Brian, Revencu, Nicole, Lehalle, Daphné, Petit, Florence, Propst, Evan J, Papsin, Blake C, Phillips, John H, Jakobsen, Linda, Le Tanno, Pauline, Thévenon, Julien, McGaughran, Julie, Gerkes, Erica H, Leoni, Chiara, Kroisel, Peter, Tan, Tiong Y, Henderson, Alex, Terhal, Paulien, Basel-Salmon, Lina, Alkindy, Adila, White, Susan M, Passos-Bueno, Maria R, Pingault, Véronique, De Pontual, Loïc, Amiel, Jeanne, Genetica Klinische Genetica, Child Health, Vegas, Nancy, Demir, Zeynep, Gordon, Christopher T, Breton, Sylvain, Romanelli Tavares, Vanessa L, Moisset, Hugo, Zechi-Ceide, Roseli, Kokitsu-Nakata, Nancy M, Kido, Yasuhiro, Marlin, Sandrine, Gherbi Halem, Souad, Meerschaut, Ilse, Callewaert, Bert, Chung, Brian, Revencu, Nicole, Lehalle, Daphné, Petit, Florence, Propst, Evan J, Papsin, Blake C, Phillips, John H, Jakobsen, Linda, Le Tanno, Pauline, Thévenon, Julien, McGaughran, Julie, Gerkes, Erica H, Leoni, Chiara, Kroisel, Peter, Tan, Tiong Y, Henderson, Alex, Terhal, Paulien, Basel-Salmon, Lina, Alkindy, Adila, White, Susan M, Passos-Bueno, Maria R, Pingault, Véronique, De Pontual, Loïc, and Amiel, Jeanne

Published
2022

26. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

Author

Vegas, Nancy, primary, Demir, Zeynep, additional, Gordon, Christopher T., additional, Breton, Sylvain, additional, Romanelli Tavares, Vanessa L., additional, Moisset, Hugo, additional, Zechi‐Ceide, Roseli, additional, Kokitsu‐Nakata, Nancy M., additional, Kido, Yasuhiro, additional, Marlin, Sandrine, additional, Gherbi Halem, Souad, additional, Meerschaut, Ilse, additional, Callewaert, Bert, additional, Chung, Brian, additional, Revencu, Nicole, additional, Lehalle, Daphné, additional, Petit, Florence, additional, Propst, Evan J., additional, Papsin, Blake C., additional, Phillips, John H., additional, Jakobsen, Linda, additional, Le Tanno, Pauline, additional, Thévenon, Julien, additional, McGaughran, Julie, additional, Gerkes, Erica H., additional, Leoni, Chiara, additional, Kroisel, Peter, additional, Tan, Tiong Y., additional, Henderson, Alex, additional, Terhal, Paulien, additional, Basel‐Salmon, Lina, additional, Alkindy, Adila, additional, White, Susan M., additional, Passos‐Bueno, Maria R., additional, Pingault, Véronique, additional, De Pontual, Loïc, additional, and Amiel, Jeanne, additional

Published
2022
Full Text
View/download PDF

27. Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

Author

Maia, Nuno, Ibarluzea, Nekane, Misra‐Isrie, Mala, Koboldt, Daniel C., Marques, Isabel, Soares, Gabriela, Santos, Rosário, Marcelis, Carlo L. M., Keski‐Filppula, Riikka, Guitart, Miriam, Gabau Vila, Elisabeth, Lehman, April, Hickey, Scott, Mori, Mari, Terhal, Paulien, Valenzuela, Irene, Lasa‐Aranzasti, Amaia, Cueto‐González, Anna Maria, Chhouk, Brian H., and Yeh, Rebecca C.

Abstract

We describe the phenotype of 22 male patients (20 probands) carrying a hemizygous missense variant in MED12. The phenotypic spectrum is very broad ranging from nonspecific intellectual disability (ID) to the three well‐known syndromes: Opitz–Kaveggia syndrome, Lujan–Fryns syndrome, or Ohdo syndrome. The identified variants were randomly distributed throughout the gene (p = 0.993, χ2 test), but mostly outside the functional domains (p = 0.004; χ2 test). Statistical analyses did not show a correlation between the MED12‐related phenotypes and the locations of the variants (p = 0.295; Pearson correlation), nor the protein domain involved (p = 0.422; Pearson correlation). In conclusion, establishing a genotype–phenotype correlation in MED12‐related diseases remains challenging. Therefore, we think that patients with a causative MED12 variant are currently underdiagnosed due to the broad patients' clinical presentations. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

28. Involvement of MAP3K7 in FMD2 and CSCF, delineation of genotype/phenotype correlations.

Author

Woerden, Geeske van, primary, Senden, Richelle, additional, Konink, Charlotte de, additional, Trezza, Rossella Avagliano, additional, baban, anwar, additional, Bassetti, Jennifer, additional, Bever, Yolande Van, additional, Bird, Lynne, additional, Bon, Bregje van, additional, Brooks, Alice, additional, Guan, Qiaoning, additional, Klee, Eric, additional, Marcelis, Carlo, additional, Morales-Rosado, Joel, additional, Schimmenti, Lisa, additional, Shikany, Amy, additional, Terhal, Paulien, additional, Weaver, Kathryn, additional, Wessels, Marja, additional, Wieringen, Hester van, additional, Hurst, Anna, additional, Gooch, Catherine, additional, Tartaglia, Marco, additional, Niceta, Marcello, additional, Elgersma, Ype, additional, and Demirdas, Serwet, additional

Published
2021
Full Text
View/download PDF

29. TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

Author

Goodman, Lindsey D., primary, Cope, Heidi, additional, Nil, Zelha, additional, Ravenscroft, Thomas A., additional, Charng, Wu-Lin, additional, Lu, Shenzhao, additional, Tien, An-Chi, additional, Pfundt, Rolph, additional, Koolen, David A., additional, Haaxma, Charlotte A., additional, Veenstra-Knol, Hermine E., additional, Wassink-Ruiter, Jolien S. Klein, additional, Wevers, Marijke R., additional, Jones, Melissa, additional, Walsh, Laurence E., additional, Klee, Victoria H., additional, Theunis, Miel, additional, Legius, Eric, additional, Steel, Dora, additional, Barwick, Katy E.S., additional, Kurian, Manju A., additional, Mohammad, Shekeeb S., additional, Dale, Russell C., additional, Terhal, Paulien A., additional, van Binsbergen, Ellen, additional, Kirmse, Brian, additional, Robinette, Bethany, additional, Cogné, Benjamin, additional, Isidor, Bertrand, additional, Grebe, Theresa A., additional, Kulch, Peggy, additional, Hainline, Bryan E., additional, Sapp, Katherine, additional, Morava, Eva, additional, Klee, Eric W., additional, Macke, Erica L., additional, Trapane, Pamela, additional, Spencer, Christopher, additional, Si, Yue, additional, Begtrup, Amber, additional, Moulton, Matthew J., additional, Dutta, Debdeep, additional, Kanca, Oguz, additional, Wangler, Michael F., additional, Yamamoto, Shinya, additional, Bellen, Hugo J., additional, and Tan, Queenie K.-G., additional

Published
2021
Full Text
View/download PDF

30. A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype

Author

Terhal, Paulien A., Nievelstein, Rutger Jan A. J., Verver, Eva J. J., Topsakal, Vedat, van Dommelen, Paula, Hoornaert, Kristien, Le Merrer, Martine, Zankl, Andreas, Simon, Marleen E. H., Smithson, Sarah F., Marcelis, Carlo, Kerr, Bronwyn, Clayton-Smith, Jill, Kinning, Esther, Mansour, Sahar, Elmslie, Frances, Goodwin, Linda, van der Hout, Annemarie H., Veenstra-Knol, Hermine E., Herkert, Johanna C., Lund, Allan M., Hennekam, Raoul C. M., Mégarbané, André, Lees, Melissa M., Wilson, Louise C., Male, Alison, Hurst, Jane, Alanay, Yasemin, Annerén, Göran, Betz, Regina C., Bongers, Ernie M. H. F., Cormier-Daire, Valerie, Dieux, Anne, David, Albert, Elting, Mariet W., van den Ende, Jenneke, Green, Andrew, van Hagen, Johanna M., Hertel, Niels Thomas, Holder-Espinasse, Muriel, den Hollander, Nicolette, Homfray, Tessa, Hove, Hanne D., Price, Susan, Raas-Rothschild, Annick, Rohrbach, Marianne, Schroeter, Barbara, Suri, Mohnish, Thompson, Elizabeth M., Tobias, Edward S., Toutain, Annick, Vreeburg, Maaike, Wakeling, Emma, Knoers, Nine V., Coucke, Paul, and Mortier, Geert R.

Published
2015
Full Text
View/download PDF

31. Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome

Author

Nicolaou, Nayia, Margadant, Coert, Kevelam, Sietske H., Lilien, Marc R., Oosterveld, Michiel J.S., Kreft, Maaike, van Eerde, Albertien M., Pfundt, Rolph, Terhal, Paulien A., van der Zwaag, Bert, Nikkels, Peter G.J., Sachs, Norman, Goldschmeding, Roel, Knoers, Nine V.A.M., Renkema, Kirsten Y., and Sonnenberg, Arnoud

Subjects
Lung diseases -- Genetic aspects -- Causes of, Glycosylation -- Research, Integrins -- Properties, Nephrotic syndrome -- Genetic aspects -- Causes of, Health care industry
Abstract

Integrins are transmembrane αβglycoproteins that connect the extracellular matrix to the cytoskeleton. The laminin-binding integrin α3β1 is expressed at high levels in lung epithelium and in kidney podocytes. In podocytes, α3β1 associates with the tetraspanin CD151 to maintain a functional filtration barrier. Here, we report on a patient homozygous for a novel missense mutation in the human ITGA3 gene, causing fatal interstitial lung disease and congenital nephrotic syndrome. The mutation caused an alanine-to-serine substitution in the integrin α3 subunit, thereby introducing an N-glycosylation motif at amino acid position 349. We expressed this mutant form of ITGA3 in murine podocytes and found that hyperglycosylation of the α3 precursor pre-vented its heterodimerization with β1, whereas CD151 association with the α3 subunit occurred normally. Consequently, the β1 precursor accumulated in the ER, and the mutant α3 precursor was degraded by the ubiquitin-proteasome system. Thus, these findings uncover a gain-of-glycosylation mutation in ITGA3 that prevents the biosynthesis of functional α3β1, causing a fatal multiorgan disorder., Introduction The integrin family is comprised of 24 transmembrane heterod-imeric αβ glycoproteins that link the extracellular matrix to the cytoskeleton (1). Most integrins connect to actin filaments and reside in [...]

Published
2012
Full Text
View/download PDF

32. TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility

Author

Genetica Klinische Genetica, Engwerda, Aafke, Leenders, Erika K S M, Frentz, Barbara, Terhal, Paulien A, Löhner, Katharina, de Vries, Bert B A, Dijkhuizen, Trijnie, Vos, Yvonne J, Rinne, Tuula, van den Berg, Maarten P, Roofthooft, Marc T R, Deelen, Patrick, van Ravenswaaij-Arts, Conny M A, Kerstjens-Frederikse, Wilhelmina S, Genetica Klinische Genetica, Engwerda, Aafke, Leenders, Erika K S M, Frentz, Barbara, Terhal, Paulien A, Löhner, Katharina, de Vries, Bert B A, Dijkhuizen, Trijnie, Vos, Yvonne J, Rinne, Tuula, van den Berg, Maarten P, Roofthooft, Marc T R, Deelen, Patrick, van Ravenswaaij-Arts, Conny M A, and Kerstjens-Frederikse, Wilhelmina S

Published
2021

33. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Author

Genetica, Genetica Klinische Genetica, Child Health, Circulatory Health, Genetica Sectie Genoomdiagnostiek, Kummeling, Joost, Stremmelaar, Diante E., Raun, Nicholas, Reijnders, Margot R.F., Willemsen, Marjolein H., Ruiterkamp-Versteeg, Martina, Schepens, Marga, Man, Calvin C.O., Gilissen, Christian, Cho, Megan T., McWalter, Kirsty, Sinnema, Margje, Wheless, James W., Simon, Marleen E.H., Genetti, Casie A., Casey, Alicia M., Terhal, Paulien A., van der Smagt, Jasper J., van Gassen, Koen L.I., Joset, Pascal, Bahr, Angela, Steindl, Katharina, Rauch, Anita, Keller, Elmar, Raas-Rothschild, Annick, Koolen, David A., Agrawal, Pankaj B., Hoffman, Trevor L., Powell-Hamilton, Nina N., Thiffault, Isabelle, Engleman, Kendra, Zhou, Dihong, Bodamer, Olaf, Hoefele, Julia, Riedhammer, Korbinian M., Schwaibold, Eva M.C., Tasic, Velibor, Schubert, Dirk, Top, Deniz, Pfundt, Rolph, Higgs, Martin R., Kramer, Jamie M., Kleefstra, Tjitske, Genetica, Genetica Klinische Genetica, Child Health, Circulatory Health, Genetica Sectie Genoomdiagnostiek, Kummeling, Joost, Stremmelaar, Diante E., Raun, Nicholas, Reijnders, Margot R.F., Willemsen, Marjolein H., Ruiterkamp-Versteeg, Martina, Schepens, Marga, Man, Calvin C.O., Gilissen, Christian, Cho, Megan T., McWalter, Kirsty, Sinnema, Margje, Wheless, James W., Simon, Marleen E.H., Genetti, Casie A., Casey, Alicia M., Terhal, Paulien A., van der Smagt, Jasper J., van Gassen, Koen L.I., Joset, Pascal, Bahr, Angela, Steindl, Katharina, Rauch, Anita, Keller, Elmar, Raas-Rothschild, Annick, Koolen, David A., Agrawal, Pankaj B., Hoffman, Trevor L., Powell-Hamilton, Nina N., Thiffault, Isabelle, Engleman, Kendra, Zhou, Dihong, Bodamer, Olaf, Hoefele, Julia, Riedhammer, Korbinian M., Schwaibold, Eva M.C., Tasic, Velibor, Schubert, Dirk, Top, Deniz, Pfundt, Rolph, Higgs, Martin R., Kramer, Jamie M., and Kleefstra, Tjitske

Published
2021

34. Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia

Author

Terhal, Paulien A, Vlaar, Judith M, Middelkamp, Sjors, Nievelstein, Rutger A J, Nikkels, Peter G J, Ross, Jamila, Créton, Marijn, Bos, Jeroen W, Voskuil-Kerkhof, Elsbeth S M, Cuppen, Edwin, Knoers, Nine, van Gassen, Koen L I, Terhal, Paulien A, Vlaar, Judith M, Middelkamp, Sjors, Nievelstein, Rutger A J, Nikkels, Peter G J, Ross, Jamila, Créton, Marijn, Bos, Jeroen W, Voskuil-Kerkhof, Elsbeth S M, Cuppen, Edwin, Knoers, Nine, and van Gassen, Koen L I

Published
2020

35. Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia

Author

Genetica Klinische Genetica, Child Health, CMM Groep Cuppen, Cancer, Arts-assistenten Radiologie, Other research (not in main researchprogram), Pathologie Pathologen staf, MKA/BT Onderzoek, Poli BT 9A-MFP, Opleiding Neurologie, MS Oogheelkunde, Infection & Immunity, CMM, Genetica, Genetica Sectie Genoomdiagnostiek, Terhal, Paulien A, Vlaar, Judith M, Middelkamp, Sjors, Nievelstein, Rutger A J, Nikkels, Peter G J, Ross, Jamila, Créton, Marijn, Bos, Jeroen W, Voskuil-Kerkhof, Elsbeth S M, Cuppen, Edwin, Knoers, Nine, van Gassen, Koen L I, Genetica Klinische Genetica, Child Health, CMM Groep Cuppen, Cancer, Arts-assistenten Radiologie, Other research (not in main researchprogram), Pathologie Pathologen staf, MKA/BT Onderzoek, Poli BT 9A-MFP, Opleiding Neurologie, MS Oogheelkunde, Infection & Immunity, CMM, Genetica, Genetica Sectie Genoomdiagnostiek, Terhal, Paulien A, Vlaar, Judith M, Middelkamp, Sjors, Nievelstein, Rutger A J, Nikkels, Peter G J, Ross, Jamila, Créton, Marijn, Bos, Jeroen W, Voskuil-Kerkhof, Elsbeth S M, Cuppen, Edwin, Knoers, Nine, and van Gassen, Koen L I

Published
2020

36. Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay

Author

Genetica Klinische Genetica, Child Health, Huang, Yan, Mao, Xiao, van Jaarsveld, Richard H, Shu, Li, Terhal, Paulien A, Jia, Zhengjun, Xi, Hui, Peng, Ying, Yan, Huiming, Yuan, Shan, Li, Qibin, Wang, Hua, Bellen, Hugo J, Genetica Klinische Genetica, Child Health, Huang, Yan, Mao, Xiao, van Jaarsveld, Richard H, Shu, Li, Terhal, Paulien A, Jia, Zhengjun, Xi, Hui, Peng, Ying, Yan, Huiming, Yuan, Shan, Li, Qibin, Wang, Hua, and Bellen, Hugo J

Published
2020

38. Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH. (Report)

Author

Veltman, Joris A., Jonkers, Yvonne, Nuijten, Inge, Janssen, Irene, van der Vliet, Walter, Huys, Erik, Vermeesch, Joris, Van Buggenhout, Griet, Fryns, Jean-Pierre, Admiraal, Ronald, Terhal, Paulien, Lacombe, Didier, van Kessel, Ad Geurts, Smeets, Dominique, Schoenmakers, Eric F.P.M., and van Ravenswaaij-Arts, Conny M.

Subjects
Birth defects -- Genetic aspects, Chromosome abnormalities -- Research, Genetic disorders -- Research, Human genetics -- Research, Biological sciences
Published
2003

39. Meier–Gorlin Syndrome: Growth and Secondary Sexual Development of a Microcephalic Primordial Dwarfism Disorder

Author

de Munnik, Sonja A., Otten, Barto J., Schoots, Jeroen, Bicknell, Louise S., Aftimos, Salim, Al-Aama, Jumana Y., van Bever, Yolande, Bober, Michael B., Borm, George F., Clayton-Smith, Jill, Deal, Cheri L., Edrees, Alaa Y., Feingold, Murray, Fryer, Alan, van Hagen, Johanna M., Hennekam, Raoul C., Jansweijer, Maaike C.E., Johnson, Diana, Kant, Sarina G., Opitz, John M., Ramadevi, Radha A., Reardon, Willie, Ross, Alison, Sarda, Pierre, Schrander-Stumpel, Constance T.R.M., Sluiter, Erik A., Temple, Karen I., Terhal, Paulien A., Toutain, Annick, Wise, Carol A., Wright, Michael, Skidmore, David L., Samuels, Mark E., Hoefsloot, Lies H., Knoers, Nine V.A.M., Brunner, Han G., Jackson, Andrew P., and Bongers, Ernie M.H.F.

Published
2012
Full Text
View/download PDF

40. Mutation-based growth charts for SEDC and other COL2A1 related dysplasias

Author

Terhal, Paulien A., van Dommelen, Paula, Le Merrer, Martine, Zankl, Andreas, Simon, Marleen E.H., Smithson, Sarah F., Marcelis, Carlo, Kerr, Bronwyn, Kinning, Esther, Mansour, Sahar, Hennekam, Raoul C.M., van der Hout, Annemarie H., Cormier-Daire, Valerie, Lund, Allan M., Goodwin, Linda, Mégarbané, André, Lees, Melissa, Betz, Regina C., Tobias, Edward S., Coucke, Paul, and Mortier, Geert R.

Published
2012
Full Text
View/download PDF

41. X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

Author

Harakalova, Magdalena, van den Boogaard, Marie-Jose, Sinke, Richard, van Lieshout, Stef, van Tuil, Marc C, Duran, Karen, Renkens, Ivo, Terhal, Paulien A, de Kovel, Carolien, Nijman, Ies J, van Haelst, Mieke, Knoers, Nine V A M, van Haaften, Gijs, Kloosterman, Wigard, Hennekam, Raoul C M, Cuppen, Edwin, and Ploos van Amstel, Hans Kristian

Published
2012
Full Text
View/download PDF

42. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

Author

Connaughton, Dervla M., primary, Dai, Rufeng, additional, Owen, Danielle J., additional, Marquez, Jonathan, additional, Mann, Nina, additional, Graham-Paquin, Adda L., additional, Nakayama, Makiko, additional, Coyaud, Etienne, additional, Laurent, Estelle M.N., additional, St-Germain, Jonathan R., additional, Blok, Lot Snijders, additional, Vino, Arianna, additional, Klämbt, Verena, additional, Deutsch, Konstantin, additional, Wu, Chen-Han Wilfred, additional, Kolvenbach, Caroline M., additional, Kause, Franziska, additional, Ottlewski, Isabel, additional, Schneider, Ronen, additional, Kitzler, Thomas M., additional, Majmundar, Amar J., additional, Buerger, Florian, additional, Onuchic-Whitford, Ana C., additional, Youying, Mao, additional, Kolb, Amy, additional, Salmanullah, Daanya, additional, Chen, Evan, additional, van der Ven, Amelie T., additional, Rao, Jia, additional, Ityel, Hadas, additional, Seltzsam, Steve, additional, Rieke, Johanna M., additional, Chen, Jing, additional, Vivante, Asaf, additional, Hwang, Daw-Yang, additional, Kohl, Stefan, additional, Dworschak, Gabriel C., additional, Hermle, Tobias, additional, Alders, Mariëlle, additional, Bartolomaeus, Tobias, additional, Bauer, Stuart B., additional, Baum, Michelle A., additional, Brilstra, Eva H., additional, Challman, Thomas D., additional, Zyskind, Jacob, additional, Costin, Carrie E., additional, Dipple, Katrina M., additional, Duijkers, Floor A., additional, Ferguson, Marcia, additional, Fitzpatrick, David R., additional, Fick, Roger, additional, Glass, Ian A., additional, Hulick, Peter J., additional, Kline, Antonie D., additional, Krey, Ilona, additional, Kumar, Selvin, additional, Lu, Weining, additional, Marco, Elysa J., additional, Wentzensen, Ingrid M., additional, Mefford, Heather C., additional, Platzer, Konrad, additional, Povolotskaya, Inna S., additional, Savatt, Juliann M., additional, Shcherbakova, Natalia V., additional, Senguttuvan, Prabha, additional, Squire, Audrey E., additional, Stein, Deborah R., additional, Thiffault, Isabelle, additional, Voinova, Victoria Y., additional, Somers, Michael J.G., additional, Ferguson, Michael A., additional, Traum, Avram Z., additional, Daouk, Ghaleb H., additional, Daga, Ankana, additional, Rodig, Nancy M., additional, Terhal, Paulien A., additional, van Binsbergen, Ellen, additional, Eid, Loai A., additional, Tasic, Velibor, additional, Rasouly, Hila Milo, additional, Lim, Tze Y., additional, Ahram, Dina F., additional, Gharavi, Ali G., additional, Reutter, Heiko M., additional, Rehm, Heidi L., additional, MacArthur, Daniel G., additional, Lek, Monkol, additional, Laricchia, Kristen M., additional, Lifton, Richard P., additional, Xu, Hong, additional, Mane, Shrikant M., additional, Sanna-Cherchi, Simone, additional, Sharrocks, Andrew D., additional, Raught, Brian, additional, Fisher, Simon E., additional, Bouchard, Maxime, additional, Khokha, Mustafa K., additional, Shril, Shirlee, additional, and Hildebrandt, Friedhelm, additional

Published
2020
Full Text
View/download PDF

43. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Author

Kummeling, Joost, primary, Stremmelaar, Diante E., additional, Raun, Nicholas, additional, Reijnders, Margot R. F., additional, Willemsen, Marjolein H., additional, Ruiterkamp-Versteeg, Martina, additional, Schepens, Marga, additional, Man, Calvin C. O., additional, Gilissen, Christian, additional, Cho, Megan T., additional, McWalter, Kirsty, additional, Sinnema, Margje, additional, Wheless, James W., additional, Simon, Marleen E. H., additional, Genetti, Casie A., additional, Casey, Alicia M., additional, Terhal, Paulien A., additional, van der Smagt, Jasper J., additional, van Gassen, Koen L. I., additional, Joset, Pascal, additional, Bahr, Angela, additional, Steindl, Katharina, additional, Rauch, Anita, additional, Keller, Elmar, additional, Raas-Rothschild, Annick, additional, Koolen, David A., additional, Agrawal, Pankaj B., additional, Hoffman, Trevor L., additional, Powell-Hamilton, Nina N., additional, Thiffault, Isabelle, additional, Engleman, Kendra, additional, Zhou, Dihong, additional, Bodamer, Olaf, additional, Hoefele, Julia, additional, Riedhammer, Korbinian M., additional, Schwaibold, Eva M. C., additional, Tasic, Velibor, additional, Schubert, Dirk, additional, Top, Deniz, additional, Pfundt, Rolph, additional, Higgs, Martin R., additional, Kramer, Jamie M., additional, and Kleefstra, Tjitske, additional

Published
2020
Full Text
View/download PDF

45. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Author

Kummeling, Joost, primary, Stremmelaar, Diante E, additional, Raun, Nicholas, additional, Reijnders, Margot RF, additional, Willemsen, Marjolein H, additional, Ruiterkamp-Versteeg, Martina, additional, Schepens, Marga, additional, Man, Calvin CO, additional, Gilissen, Christian, additional, Cho, Megan T, additional, McWalter, Kirsty, additional, Sinnema, Margje, additional, Wheless, James W, additional, Simon, Marleen EH, additional, Genetti, Casie A, additional, Casey, Alicia M, additional, Terhal, Paulien A, additional, van der Smagt, Jasper J, additional, van Gassen, Koen L, additional, Joset, Pascal, additional, Bahr, Angela, additional, Steindl, Katharina, additional, Rauch, Anita, additional, Keller, Elmar, additional, Raas-Rothschild, Annick, additional, Koolen, David A, additional, Agrawal, Pankaj B, additional, Hoffman, Trevor L, additional, Powell-Hamilton, Nina N, additional, Thiffault, Isabelle, additional, Engleman, Kendra, additional, Zhou, Dihong, additional, Bodamer, Olaf, additional, Hoefele, Julia, additional, Riedhammer, Korbinian M, additional, Schwaibold, Eva MC, additional, Tasic, Velibor, additional, Schubert, Dirk, additional, Top, Deniz, additional, Pfundt, Rolph, additional, Higgs, Martin R, additional, Kramer, Jamie M, additional, and Kleefstra, Tjitske, additional

Published
2019
Full Text
View/download PDF

47. Erratum: De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders (The American Journal of Human Genetics (2019) 104(1) (139–156), (S0002929718304531) (10.1016/j.ajhg.2018.12.002))

Author

Reynhout, Sara, Jansen, Sandra, Haesen, Dorien, van Belle, Siska, de Munnik, Sonja A., Bongers, Ernie M. H. F., Schieving, Jolanda H., Marcelis, Carlo, Amiel, Jeanne, Rio, Marlène, Mclaughlin, Heather, Ladda, Roger, Sell, Susan, Kriek, Marjolein, Peeters-Scholte, Cacha M. P. C. D., Terhal, Paulien A., van Gassen, Koen L., Verbeek, Nienke, Henry, Sonja, Schwoerer, Jessica Scott, Malik, Saleem, Revencu, Nicole, Ferreira, Carlos R., Macnamara, Ellen, Braakman, Hilde M. H., Brimble, Elise, Ruzhnikov, Maura R. Z., Wagner, Matias, Harrer, Philip, Wieczorek, Dagmar, Kuechler, Alma, Tziperman, Barak, Barel, Ortal, de Vries, Bert B. A., Gordon, Christopher T., Janssens, Veerle, Vissers, Lisenka E. L. M., and Human genetics

Abstract

(The American Journal of Human Genetics 104, 139–156; January 3, 2019) In the original version of this article published on December 27, 2018, Maura R.Z. Ruzhnikov's surname was unfortunately misspelled. It appears correctly here and online. The authors apologize for the error.

Published
2019
Full Text
View/download PDF

48. Townes-Brocks Syndrome: Twenty Novel SALL1 Mutations in Sporadic and Familial Cases and Refinement of the SALL1 Hot Spot Region

Author

Botzenhart, Elke M., Bartalini, Gabriella, Blair, Edward, Brady, Angela F., Elmslie, Frances, Chong, Karen L., Christy, Katie, Torres-Martinez, Wilfredo, Danesino, Cesare, Deardorff, Matthew A., Fryns, Jean-Pierre, Marlin, Sandrine, Garcia-Minaur, Sixto, Hellenbroich, Yorck, Hay, Beverly N., Penttinen, Maila, Shashi, Vandana, Terhal, Paulien, Van Maldergem, Lionel, Whiteford, Margo L., Zackai, Elaine, and Kohlhase, Jürgen

Published
2007
Full Text
View/download PDF

50. De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

Author

Reynhout, Sara, Jansen, Sandra, Haesen, Dorien, van Belle, Siska, de Munnik, Sonja A., Bongers, Ernie M.H.F., Schieving, Jolanda H., Marcelis, Carlo, Amiel, Jeanne, Rio, Marlène, Mclaughlin, Heather, Ladda, Roger, Sell, Susan, Kriek, Marjolein, Peeters-Scholte, Cacha M.P.C.D., Terhal, Paulien A., van Gassen, Koen L., Verbeek, Nienke, Henry, Sonja, Scott Schwoerer, Jessica, Malik, Saleem, Revencu, Nicole, Ferreira, Carlos R., Macnamara, Ellen, Braakman, Hilde M.H., Brimble, Elise, Ruznikov, Maura R.Z., Wagner, Matias, Harrer, Philip, Wieczorek, Dagmar, Kuechler, Alma, Tziperman, Barak, Barel, Ortal, de Vries, Bert B.A., Gordon, Christopher T., Janssens, Veerle, Vissers, Lisenka E.L.M., Reynhout, Sara, Jansen, Sandra, Haesen, Dorien, van Belle, Siska, de Munnik, Sonja A., Bongers, Ernie M.H.F., Schieving, Jolanda H., Marcelis, Carlo, Amiel, Jeanne, Rio, Marlène, Mclaughlin, Heather, Ladda, Roger, Sell, Susan, Kriek, Marjolein, Peeters-Scholte, Cacha M.P.C.D., Terhal, Paulien A., van Gassen, Koen L., Verbeek, Nienke, Henry, Sonja, Scott Schwoerer, Jessica, Malik, Saleem, Revencu, Nicole, Ferreira, Carlos R., Macnamara, Ellen, Braakman, Hilde M.H., Brimble, Elise, Ruznikov, Maura R.Z., Wagner, Matias, Harrer, Philip, Wieczorek, Dagmar, Kuechler, Alma, Tziperman, Barak, Barel, Ortal, de Vries, Bert B.A., Gordon, Christopher T., Janssens, Veerle, and Vissers, Lisenka E.L.M.

Published
2019

Catalog

Books, media, physical & digital resources
See catalog results