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2. Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome

Author

Delafontaine, Selket, Iannuzzo, Alberto, Bigley, Tarin M., Mylemans, Bram, Rana, Ruchit, Baatsen, Pieter, Poli, Maria Cecilia, Rymen, Daisy, Jansen, Katrien, Mekahli, Djalila, Casteels, Ingele, Cassiman, Catherine, Demaerel, Philippe, Lepelley, Alice, Fremond, Marie-Louise, Schrijvers, Rik, Vints, Xavier Bossuy Katlijn, Huybrechts, Wim, Tacine, Rachida, Willekens, Karen, Corveleyn, Anniek, Boeckx, Bram, Baggio, Marco, Ehlers, Lisa, Munck, Sebastian, Lambrechts, Diether, Moens, Arnout VoeLeen, Bucciol, Giorgia, Cooper, Megan A., Davis, Carla M., Delon, Jerome, and Meyts, Isabelle

Subjects
Interferon, Family, Autoimmunity, B cells -- Genetic aspects, Health care industry
Abstract

Mutations in the N-terminal WD40 domain of coatomer protein complex subunit a (COPA) cause a type I interferonopathy, typically characterized by alveolar hemorrhage, arthritis, and nephritis. We described 3 heterozygous mutations in the C-terminal domain (CTD) of COPA (p.C1013S, p.R1058C, and p.R1142X) in 6 children from 3 unrelated families with a similar syndrome of autoinflammation and autoimmunity. We showed that these CTD COPA mutations disrupt the integrity and the function of coat protein complex I (COPI). In [COPA.sup.R1142X] and [COPA.sup.R1058C] fibroblasts, we demonstrated that COPI dysfunction causes both an anterograde ER-to-Golgi and a retrograde Golgi-to-ER trafficking defect. The disturbed intracellular trafficking resulted in a cGAS/STING-dependent upregulation of the type I IFN signaling in patients and patient-derived cell lines, albeit through a distinct molecular mechanism in comparison with mutations in the WD40 domain of COPA. We showed that CTD COPA mutations induce an activation of ER stress and NF-[kappa]B signaling in patient-derived primary cell lines. These results demonstrate the importance of the integrity of the CTD of COPA for COPI function and homeostatic intracellular trafficking, essential to ER homeostasis. CTD COPA mutations result in disease by increased ER stress, disturbed intracellular transport, and increased proinflammatory signaling., Introduction The COPA gene encodes coatomer protein complex subunit [alpha] (COPA) (1). COPA was described in 1991 as a coat subunit of Golgi derived non-clathrin-coated vesicles, later termed 'coatomer' (2, [...]

Published
2024
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3. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Author

Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, and Lipska-Ziętkiewicz, Beata S.

Published
2021
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4. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria(European Journal of Human Genetics, (2021), 29, 8, (1186-1197), 10.1038/s41431-021-00858-1)

Author

Genetica Klinische Genetica, Cancer, Child Health, Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, Lipska-Ziętkiewicz, Beata S., Genetica Klinische Genetica, Cancer, Child Health, Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, and Lipska-Ziętkiewicz, Beata S.

Published
2024

8. Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype

Author

Blommaert, Eline, Péanne, Romain, Cherepanova, Natalia A., Rymen, Daisy, Staels, Frederik, Jaeken, Jaak, Race, Valérie, Keldermans, Liesbeth, Souche, Erika, Corveleyn, Anniek, Sparkes, Rebecca, Bhattacharya, Kaustuv, Devalck, Christine, Schrijvers, Rik, Foulquier, François, Gilmore, Reid, and Matthijs, Gert

Published
2019

10. Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

Author

Verheije, Rosalind, Kupchik, Gabriel S., Isidor, Bertrand, Kroes, Hester Y., Lynch, Sally Ann, Hawkes, Lara, Hempel, Maja, Gelb, Bruce D., Ghoumid, Jamal, D’Amours, Guylaine, Chandler, Kate, Dubourg, Christèle, Loddo, Sara, Tümer, Zeynep, Shaw-Smith, Charles, Nizon, Mathilde, Shevell, Michael, Van Hoof, Evelien, Anyane-Yeboa, Kwame, Cerbone, Gaetana, Clayton-Smith, Jill, Cogné, Benjamin, Corre, Pierre, Corveleyn, Anniek, De Borre, Marie, Hjortshøj, Tina Duelund, Fradin, Mélanie, Gewillig, Marc, Goldmuntz, Elizabeth, Hens, Greet, Lemyre, Emmanuelle, Journel, Hubert, Kini, Usha, Kortüm, Fanny, Le Caignec, Cedric, Novelli, Antonio, Odent, Sylvie, Petit, Florence, Revah-Politi, Anya, Stong, Nicholas, Strom, Tim M., van Binsbergen, Ellen, DDD study, Devriendt, Koenraad, and Breckpot, Jeroen

Published
2019
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11. Clinical application of multigene panel testing for bleeding, thrombotic, and platelet disorders: a 3-year Belgian experience

Author

Van Laer, Christine, primary, Jacquemin, Marc, additional, Baert, Sarissa, additional, Labarque, Veerle, additional, Thys, Chantal, additional, Vanassche, Thomas, additional, Van Geet, Chris, additional, Verhamme, Peter, additional, Willekens, Karen, additional, Corveleyn, Anniek, additional, Peerlinck, Kathelijne, additional, and Freson, Kathleen, additional

Published
2023
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13. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Author

Savige, Judy, primary, Storey, Helen, additional, Watson, Elizabeth, additional, Hertz, Jens Michael, additional, Deltas, Constantinos, additional, Renieri, Alessandra, additional, Mari, Francesca, additional, Hilbert, Pascale, additional, Plevova, Pavlina, additional, Byers, Peter, additional, Cerkauskaite, Agne, additional, Gregory, Martin, additional, Cerkauskiene, Rimante, additional, Ljubanovic, Danica Galesic, additional, Becherucci, Francesca, additional, Errichiello, Carmela, additional, Massella, Laura, additional, Aiello, Valeria, additional, Lennon, Rachel, additional, Hopkinson, Louise, additional, Koziell, Ania, additional, Lungu, Adrian, additional, Rothe, Hansjorg Martin, additional, Hoefele, Julia, additional, Zacchia, Miriam, additional, Martic, Tamara Nikuseva, additional, Gupta, Asheeta, additional, van Eerde, Albertien, additional, Gear, Susie, additional, Landini, Samuela, additional, Palazzo, Viviana, additional, al-Rabadi, Laith, additional, Claes, Kathleen, additional, Corveleyn, Anniek, additional, Van Hoof, Evelien, additional, van Geel, Micheel, additional, Williams, Maggie, additional, Ashton, Emma, additional, Belge, Hendica, additional, Ars, Elisabeth, additional, Bierzynska, Agnieszka, additional, Gangemi, Concetta, additional, and Lipska-Ziętkiewicz, Beata S., additional

Published
2023
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14. Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations

Author

Staels, Frederik, primary, De Keukeleere, Kerstin, additional, Kinnunen, Matias, additional, Keskitalo, Salla, additional, Lorenzetti, Flaminia, additional, Vanmeert, Michiel, additional, Prezzemolo, Teresa, additional, Pasciuto, Emanuela, additional, Lescrinier, Eveline, additional, Bossuyt, Xavier, additional, Gerbaux, Margaux, additional, Willemsen, Mathijs, additional, Neumann, Julika, additional, Van Loo, Sien, additional, Corveleyn, Anniek, additional, Willekens, Karen, additional, Stalmans, Ingeborg, additional, Meyts, Isabelle, additional, Liston, Adrian, additional, Humblet-Baron, Stephanie, additional, Seppänen, Mikko, additional, Varjosalo, Markku, additional, and Schrijvers, Rik, additional

Published
2022
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15. Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility (Nature Genetics, (2022), 54, 3, (232-239), 10.1038/s41588-021-01007-6)

Author

Barc, Julien, Tadros, Rafik, Glinge, Charlotte, Chiang, David Y., Jouni, Mariam, Simonet, Floriane, Jurgens, Sean J., Baudic, Manon, Nicastro, Michele, Potet, Franck, Offerhaus, Joost A., Walsh, Roddy, Choi, Seung Hoan, Verkerk, Arie O., Mizusawa, Yuka, Anys, Soraya, Minois, Damien, Arnaud, Marine, Duchateau, Josselin, Wijeyeratne, Yanushi D., Muir, Alison, Papadakis, Michael, Castelletti, Silvia, Torchio, Margherita, Ortuño, Cristina Gil, Lacunza, Javier, Giachino, Daniela F., Cerrato, Natascia, Martins, Raphaël P., Campuzano, Oscar, van Dooren, Sonia, Thollet, Aurélie, Kyndt, Florence, Mazzanti, Andrea, Clémenty, Nicolas, Bisson, Arnaud, Corveleyn, Anniek, Stallmeyer, Birgit, Dittmann, Sven, Saenen, Johan, Noël, Antoine, Honarbakhsh, Shohreh, Rudic, Boris, Marzak, Halim, Rowe, Matthew K., Federspiel, Claire, le Page, Sophie, Placide, Leslie, Milhem, Antoine, Barajas-Martinez, Hector, Beckmann, Britt-Maria, Krapels, Ingrid P., Steinfurt, Johannes, Winkel, Bo Gregers, Jabbari, Reza, Shoemaker, Moore B., Boukens, Bas J., Škorić-Milosavljević, Doris, Bikker, Hennie, Manevy, Federico, Lichtner, Peter, Ribasés, Marta, Meitinger, Thomas, Müller-Nurasyid, Martina, Strauch, Konstantin, Peters, Annette, Schulz, Holger, Schwettmann, Lars, Leidl, Reiner, Heier, Margit, Veldink, Jan H., van den Berg, Leonard H., van Damme, Philip, Cusi, Daniele, Lanzani, Chiara, Rigade, Sidwell, Charpentier, Eric, Baron, Estelle, Bonnaud, Stéphanie, Lecointe, Simon, Donnart, Audrey, le Marec, Hervé, Chatel, Stéphanie, Karakachoff, Matilde, Bézieau, Stéphane, London, Barry, Tfelt-Hansen, Jacob, Roden, Dan, Odening, Katja E., Cerrone, Marina, Chinitz, Larry A., Volders, Paul G., van de Berg, Maarten P., Laurent, Gabriel, Faivre, Laurence, Antzelevitch, Charles, Kääb, Stefan, Arnaout, Alain Al, Dupuis, Jean-Marc, Pasquie, Jean-Luc, Billon, Olivier, Roberts, Jason D., Jesel, Laurence, Borggrefe, Martin, Lambiase, Pier D., Mansourati, Jacques, Loeys, Bart, Leenhardt, Antoine, Guicheney, Pascale, Maury, Philippe, Schulze-Bahr, Eric, Robyns, Tomas, Breckpot, Jeroen, Babuty, Dominique, Priori, Silvia G., Napolitano, Carlo, Defaye, Pascal, Anselme, Frédéric, Darmon, Jean Philippe, Wiart, François, de Asmundis, Carlo, Brugada, Pedro, Brugada, Ramon, Arbelo, Elena, Brugada, Josep, Mabo, Philippe, Behar, Nathalie, Giustetto, Carla, Molina, Maria Sabater, Gimeno, Juan R., Hasdemir, Can, Schwartz, Peter J., Crotti, Lia, McKeown, Pascal P., Sharma, Sanjay, Behr, Elijah R., Haissaguerre, Michel, Sacher, Frédéric, Rooryck, Caroline, Tan, Hanno L., Remme, Carol A., Postema, Pieter G., Delmar, Mario, Ellinor, Patrick T., Lubitz, Steven A., Gourraud, Jean-Baptiste, Tanck, Michael W., George, Alfred L., MacRae, Calum A., Burridge, Paul W., Dina, Christian, Probst, Vincent, Wilde, Arthur A., Schott, Jean-Jacques, Redon, Richard, Bezzina, Connie R., Cardiology, Graduate School, Medical Biology, ACS - Amsterdam Cardiovascular Sciences, ACS - Heart failure & arrhythmias, Human Genetics, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, APH - Methodology, and Epidemiology and Data Science

Subjects
ComputingMethodologies_DOCUMENTANDTEXTPROCESSING
Abstract

In the version of this article initially published, Federico Manevy’s name appeared with a middle initial in error. The name has been corrected in the HTML and PDF versions of the article.

Published
2022

16. Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

Author

Barc, Julien, Tadros, Rafik, Glinge, Charlotte, Chiang, David Y, Jouni, Mariam, Simonet, Floriane, Jurgens, Sean J, Baudic, Manon, Nicastro, Michele, Potet, Franck, Offerhaus, Joost A, Walsh, Roddy, Choi, Seung Hoan, Verkerk, Arie O, Mizusawa, Yuka, Anys, Soraya, Minois, Damien, Arnaud, Marine, Duchateau, Josselin, Wijeyeratne, Yanushi D, Muir, Alison, Papadakis, Michael, Castelletti, Silvia, Torchio, Margherita, Ortuño, Cristina Gil, Lacunza, Javier, Giachino, Daniela F, Cerrato, Natascia, Martins, Raphaël P, Campuzano, Oscar, Van Dooren, Sonia, Thollet, Aurélie, Kyndt, Florence, Mazzanti, Andrea, Clémenty, Nicolas, Bisson, Arnaud, Corveleyn, Anniek, Stallmeyer, Birgit, Dittmann, Sven, Saenen, Johan, Noël, Antoine, Honarbakhsh, Shohreh, Rudic, Boris, Marzak, Halim, Rowe, Matthew K, Federspiel, Claire, Le Page, Sophie, Winkel, Bo Gregers, Tfelt-Hansen, Jacob, Bezzina, Connie R, Barc, Julien, Tadros, Rafik, Glinge, Charlotte, Chiang, David Y, Jouni, Mariam, Simonet, Floriane, Jurgens, Sean J, Baudic, Manon, Nicastro, Michele, Potet, Franck, Offerhaus, Joost A, Walsh, Roddy, Choi, Seung Hoan, Verkerk, Arie O, Mizusawa, Yuka, Anys, Soraya, Minois, Damien, Arnaud, Marine, Duchateau, Josselin, Wijeyeratne, Yanushi D, Muir, Alison, Papadakis, Michael, Castelletti, Silvia, Torchio, Margherita, Ortuño, Cristina Gil, Lacunza, Javier, Giachino, Daniela F, Cerrato, Natascia, Martins, Raphaël P, Campuzano, Oscar, Van Dooren, Sonia, Thollet, Aurélie, Kyndt, Florence, Mazzanti, Andrea, Clémenty, Nicolas, Bisson, Arnaud, Corveleyn, Anniek, Stallmeyer, Birgit, Dittmann, Sven, Saenen, Johan, Noël, Antoine, Honarbakhsh, Shohreh, Rudic, Boris, Marzak, Halim, Rowe, Matthew K, Federspiel, Claire, Le Page, Sophie, Winkel, Bo Gregers, Tfelt-Hansen, Jacob, and Bezzina, Connie R

Abstract

Brugada syndrome (BrS) is a cardiac arrhythmia disorder associated with sudden death in young adults. With the exception of SCN5A, encoding the cardiac sodium channel NaV1.5, susceptibility genes remain largely unknown. Here we performed a genome-wide association meta-analysis comprising 2,820 unrelated cases with BrS and 10,001 controls, and identified 21 association signals at 12 loci (10 new). Single nucleotide polymorphism (SNP)-heritability estimates indicate a strong polygenic influence. Polygenic risk score analyses based on the 21 susceptibility variants demonstrate varying cumulative contribution of common risk alleles among different patient subgroups, as well as genetic associations with cardiac electrical traits and disorders in the general population. The predominance of cardiac transcription factor loci indicates that transcriptional regulation is a key feature of BrS pathogenesis. Furthermore, functional studies conducted on MAPRE2, encoding the microtubule plus-end binding protein EB2, point to microtubule-related trafficking effects on NaV1.5 expression as a new underlying molecular mechanism. Taken together, these findings broaden our understanding of the genetic architecture of BrS and provide new insights into its molecular underpinnings.

Published
2022

17. A Novel Kindred with MyD88 Deficiency

Author

Bucciol, Giorgia, Moens, Leen, Corveleyn, Anniek, Dreesman, Alexandra, Meyts, Isabelle, Bucciol, Giorgia, Moens, Leen, Corveleyn, Anniek, Dreesman, Alexandra, and Meyts, Isabelle

Abstract

SCOPUS: le.j, DecretOANoAutActif, info:eu-repo/semantics/published

Published
2022

18. Guidelines for Genetic Testing and Management of Alport Syndrome

Author

Genetica Klinische Genetica, Child Health, Cancer, Savige, Judy, Lipska-Zietkiewicz, Beata S, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, Al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabet, Bierzynska, Agnieszka, Gangemi, Concetta, Renieri, Alessandra, Storey, Helen, Flinter, Frances, Genetica Klinische Genetica, Child Health, Cancer, Savige, Judy, Lipska-Zietkiewicz, Beata S, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, Al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabet, Bierzynska, Agnieszka, Gangemi, Concetta, Renieri, Alessandra, Storey, Helen, and Flinter, Frances

Published
2022

19. Terminal Complement Pathway Deficiency in an Adult Patient with Meningococcal Sepsis

Author

Staels, Frederik, Meersseman, Wouter, Stordeur, Patrick, Willekens, Karen, Van Loo, Sien, Corveleyn, Anniek, Meyts, Isabelle, Meyfroidt, G., Schrijvers, Rik, Staels, Frederik, Meersseman, Wouter, Stordeur, Patrick, Willekens, Karen, Van Loo, Sien, Corveleyn, Anniek, Meyts, Isabelle, Meyfroidt, G., and Schrijvers, Rik

Abstract

The complement system is an essential part of our innate immune system. Three enzymatic activation pathways are described, all converging into a common terminal pathway which causes lysis of the target cell. Late complement deficiencies (LCDs) are typically diagnosed in children or adolescents with invasive meningococcal disease (IMD). However, IMD can also be a first manifestation in adulthood and should prompt for the evaluation of the LCD. We report the case of a young adult with IMD who was found to have a LCD, caused by a compound heterozygous mutation in C6. His vaccination status was optimized and prophylactic antibiotic treatment was initiated. By means of this case, we would like to raise awareness of underlying LCD in (young) adults presenting with IMD by N. meningitidis. Screening for complement deficiencies after IMD, followed by genetic testing, can be lifesaving and allows for genetic counselling. In addition, we discuss the diagnosis and treatment of LCD., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2022

20. Delayed presentations of severe combined immunodeficiency during the SARS‑CoV‑2 pandemic

Author

Hoste, Levi, Bucciol, Giorgia, Corveleyn, Anniek, Cornelis, Stijn, Bordon, Victoria, de Jaeger, Annik, Schaballie, Heidi, Deolet, Ellen, Van Dorpe, Jo, Strubbe, Gregory, Padalko, Elizaveta, Roukaerts, Inge, Desmet, Lars, Moens, Leen, Bossuyt, Xavier, Haerynck, Filomeen, and Meyts, Isabelle

Subjects
Medicine and Health Sciences
Abstract

Background and Aims Severe combined immunodeficiency (SCID) is characterized by severe T lymphocyte dysfunction and variable B/NK cell abnormalities. With extreme susceptibility for infection, SCID usually evolves fatal in the first months in the absence of treatment.. For multiple infectious diseases, epidemiological dynamics were altered during the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic. Methods We describe two SCID patients with delayed onset of symptoms during the SARS-CoV-2 pandemic. Results P1, a boy, presents with first symptoms of respiratory tract infection at age of 14 months. P2, another boy, presented lower respiratory tract infection and gastroenteritis at 8 months. Previously, both patients had remained free from severe infections, failure-to-thrive or developmental delay. Daycare attendance was postponed because of lockdown measures. Absent thymic shadows prompted further investigations in both instances. Lymphopenia with a T-B+NK+ (P1) and T-B-NK+ (P2) phenotype was found. Pulmonary infection with vaccine-strain measles and parainfluenza (P1) and disseminated adenovirus infection (P2) was documented. Despite broad antimicrobial treatment (including ribavirin (P1) and cidofovir (P2)) respiratory disease progressed. Cardiogenic shock (P1) and hemophagocytic syndrome (P2) developed. Ultimately, multiple organ failure resulted in fatal outcome in both. Genetic testing revealed a homozygous c150_153del in IL7R (P1) and compound heterozygous c.442dupG and c.241C>T in DCLRE1C (P2). Conclusions We describe two patients with SCID, yet late presentation. Their exposure to infection could have been diminished because of reduced microbial transmission during the pandemic. Clinicians should be aware of delayed presentations of severe immune disorders during a global sanitary crisis.

Published
2022

21. Guidelines for Genetic Testing and Management of Alport Syndrome

Author

Savige, Judy, primary, Lipska-Zietkiewicz, Beata S., additional, Watson, Elizabeth, additional, Hertz, Jens Michael, additional, Deltas, Constantinos, additional, Mari, Francesca, additional, Hilbert, Pascale, additional, Plevova, Pavlina, additional, Byers, Peter, additional, Cerkauskaite, Agne, additional, Gregory, Martin, additional, Cerkauskiene, Rimante, additional, Ljubanovic, Danica Galesic, additional, Becherucci, Francesca, additional, Errichiello, Carmela, additional, Massella, Laura, additional, Aiello, Valeria, additional, Lennon, Rachel, additional, Hopkinson, Louise, additional, Koziell, Ania, additional, Lungu, Adrian, additional, Rothe, Hansjorg Martin, additional, Hoefele, Julia, additional, Zacchia, Miriam, additional, Martic, Tamara Nikuseva, additional, Gupta, Asheeta, additional, van Eerde, Albertien, additional, Gear, Susie, additional, Landini, Samuela, additional, Palazzo, Viviana, additional, al-Rabadi, Laith, additional, Claes, Kathleen, additional, Corveleyn, Anniek, additional, Van Hoof, Evelien, additional, van Geel, Micheel, additional, Williams, Maggie, additional, Ashton, Emma, additional, Belge, Hendica, additional, Ars, Elisabet, additional, Bierzynska, Agnieszka, additional, Gangemi, Concetta, additional, Renieri, Alessandra, additional, Storey, Helen, additional, and Flinter, Frances, additional

Published
2022
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23. Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers

Author

Lantoine, Joséphine, primary, Brysse, Anne, additional, Dideberg, Vinciane, additional, Claes, Kathleen, additional, Symoens, Sofie, additional, Coucke, Wim, additional, Benoit, Valérie, additional, Rombout, Sonia, additional, De Rycke, Martine, additional, Seneca, Sara, additional, Van Laer, Lut, additional, Wuyts, Wim, additional, Corveleyn, Anniek, additional, Van Den Bogaert, Kris, additional, Rydlewski, Catherine, additional, Wilkin, Françoise, additional, Ravoet, Marie, additional, Fastré, Elodie, additional, Capron, Arnaud, additional, and Vandevelde, Nathalie Monique, additional

Published
2021
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24. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Author

Genetica Klinische Genetica, Cancer, Child Health, Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, Lipska-Ziętkiewicz, Beata S., Genetica Klinische Genetica, Cancer, Child Health, Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, and Lipska-Ziętkiewicz, Beata S.

Published
2021

25. Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Author

Walsh, Roddy, Lahrouchi, Najim, Tadros, Rafik, Kyndt, Florence, Glinge, Charlotte, Postema, Pieter G., Amin, Ahmad S., Nannenberg, Eline A., Ware, James S., Whiffin, Nicola, Mazzarotto, Francesco, Skoric-Milosavljevic, Doris, Krijger, Christian, Arbelo, Elena, Babuty, Dominique, Barajas-Martinez, Hector, Beckmann, Britt M., Bezieau, Stephane, Bos, J. Martijn, Breckpot, Jeroen, Campuzano, Oscar, Castelletti, Silvia, Celen, Candan, Clauss, Sebastian, Corveleyn, Anniek, Crotti, Lia, Dagradi, Federica, de Asmundis, Carlo, Denjoy, Isabelle, Dittmann, Sven, Ellinor, Patrick T., Ortuno, Cristina Gil, Giustetto, Carla, Gourraud, Jean-Baptiste, Hazeki, Daisuke, Horie, Minoru, Ishikawa, Taisuke, Itoh, Hideki, Kaneko, Yoshiaki, Kanters, Jorgen K., Kimoto, Hiroki, Kotta, Maria-Christina, Krapels, Ingrid P. C., Kurabayashi, Masahiko, Lazarte, Julieta, Leenhardt, Antoine, Loeys, Bart L., Lundin, Catarina, Makiyama, Takeru, Mansourati, Jacques, Martins, Raphael P., Mazzanti, Andrea, Mörner, Stellan, Napolitano, Carlo, Ohkubo, Kimie, Papadakis, Michael, Rudic, Boris, Molina, Maria Sabater, Sacher, Frederic, Sahin, Hatice, Sarquella-Brugada, Georgia, Sebastiano, Regina, Sharma, Sanjay, Sheppard, Mary N., Shimamoto, Keiko, Shoemaker, M. Benjamin, Stallmeyer, Birgit, Steinfurt, Johannes, Tanaka, Yuji, Tester, David J., Usuda, Keisuke, van der Zwaag, Paul A., Van Dooren, Sonia, Van Laer, Lut, Winbo, Annika, Winkel, Bo G., Yamagata, Kenichiro, Zumhagen, Sven, Volders, Paul G. A., Lubitz, Steven A., Antzelevitch, Charles, Platonov, Pyotr G., Odening, Katja E., Roden, Dan M., Roberts, Jason D., Skinner, Jonathan R., Tfelt-Hansen, Jacob, van den Berg, Maarten P., Olesen, Morten S., Lambiase, Pier D., Borggrefe, Martin, Hayashi, Kenshi, Rydberg, Annika, Nakajima, Tadashi, Yoshinaga, Masao, Saenen, Johan B., Kaeaeb, Stefan, Brugada, Pedro, Robyns, Tomas, Giachino, Daniela F., Ackerman, Michael J., Brugada, Ramon, Brugada, Josep, Gimeno, Juan R., Hasdemir, Can, Guicheney, Pascale, Priori, Silvia G., Schulze-Bahr, Eric, Makita, Naomasa, Schwartz, Peter J., Shimizu, Wataru, Aiba, Takeshi, Schott, Jean-Jacques, Redon, Richard, Ohno, Seiko, Probst, Vincent, Behr, Elijah R., Barc, Julien, Bezzina, Connie R., Walsh, Roddy, Lahrouchi, Najim, Tadros, Rafik, Kyndt, Florence, Glinge, Charlotte, Postema, Pieter G., Amin, Ahmad S., Nannenberg, Eline A., Ware, James S., Whiffin, Nicola, Mazzarotto, Francesco, Skoric-Milosavljevic, Doris, Krijger, Christian, Arbelo, Elena, Babuty, Dominique, Barajas-Martinez, Hector, Beckmann, Britt M., Bezieau, Stephane, Bos, J. Martijn, Breckpot, Jeroen, Campuzano, Oscar, Castelletti, Silvia, Celen, Candan, Clauss, Sebastian, Corveleyn, Anniek, Crotti, Lia, Dagradi, Federica, de Asmundis, Carlo, Denjoy, Isabelle, Dittmann, Sven, Ellinor, Patrick T., Ortuno, Cristina Gil, Giustetto, Carla, Gourraud, Jean-Baptiste, Hazeki, Daisuke, Horie, Minoru, Ishikawa, Taisuke, Itoh, Hideki, Kaneko, Yoshiaki, Kanters, Jorgen K., Kimoto, Hiroki, Kotta, Maria-Christina, Krapels, Ingrid P. C., Kurabayashi, Masahiko, Lazarte, Julieta, Leenhardt, Antoine, Loeys, Bart L., Lundin, Catarina, Makiyama, Takeru, Mansourati, Jacques, Martins, Raphael P., Mazzanti, Andrea, Mörner, Stellan, Napolitano, Carlo, Ohkubo, Kimie, Papadakis, Michael, Rudic, Boris, Molina, Maria Sabater, Sacher, Frederic, Sahin, Hatice, Sarquella-Brugada, Georgia, Sebastiano, Regina, Sharma, Sanjay, Sheppard, Mary N., Shimamoto, Keiko, Shoemaker, M. Benjamin, Stallmeyer, Birgit, Steinfurt, Johannes, Tanaka, Yuji, Tester, David J., Usuda, Keisuke, van der Zwaag, Paul A., Van Dooren, Sonia, Van Laer, Lut, Winbo, Annika, Winkel, Bo G., Yamagata, Kenichiro, Zumhagen, Sven, Volders, Paul G. A., Lubitz, Steven A., Antzelevitch, Charles, Platonov, Pyotr G., Odening, Katja E., Roden, Dan M., Roberts, Jason D., Skinner, Jonathan R., Tfelt-Hansen, Jacob, van den Berg, Maarten P., Olesen, Morten S., Lambiase, Pier D., Borggrefe, Martin, Hayashi, Kenshi, Rydberg, Annika, Nakajima, Tadashi, Yoshinaga, Masao, Saenen, Johan B., Kaeaeb, Stefan, Brugada, Pedro, Robyns, Tomas, Giachino, Daniela F., Ackerman, Michael J., Brugada, Ramon, Brugada, Josep, Gimeno, Juan R., Hasdemir, Can, Guicheney, Pascale, Priori, Silvia G., Schulze-Bahr, Eric, Makita, Naomasa, Schwartz, Peter J., Shimizu, Wataru, Aiba, Takeshi, Schott, Jean-Jacques, Redon, Richard, Ohno, Seiko, Probst, Vincent, Behr, Elijah R., Barc, Julien, and Bezzina, Connie R.

Abstract

Purpose: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific customization of American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines can address this false negative rate. Methods: We compared rare variant frequencies from 1847 LQTS (KCNQ1/KCNH2/SCN5A) and 3335 BrS (SCN5A) cases from the International LQTS/BrS Genetics Consortia to population-specific gnomAD data and developed disease-specific criteria for ACMG/AMP evidence classes-rarity (PM2/BS1 rules) and case enrichment of individual (PS4) and domain-specific (PM1) variants. Results: Rare SCN5A variant prevalence differed between European (20.8%) and Japanese (8.9%) BrS patients (p = 5.7 x 10(-18)) and diagnosis with spontaneous (28.7%) versus induced (15.8%) Brugada type 1 electrocardiogram (ECG) (p = 1.3 x 10(-13)). Ion channel transmembrane regions and specific N-terminus (KCNH2) and C-terminus (KCNQ1/KCNH2) domains were characterized by high enrichment of case variants and >95% probability of pathogenicity. Applying the customized rules, 17.4% of European BrS and 74.8% of European LQTS cases had (likely) pathogenic variants, compared with estimated diagnostic yields (case excess over gnomAD) of 19.2%/82.1%, reducing VUS prevalence to close to background rare variant frequency. Conclusion: Large case-control data sets enable quantitative implementation of ACMG/AMP guidelines and increased sensitivity for inherited arrhythmia genetic testing.

Published
2021
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26. Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers.

Author

UCL - SSS/DDUV/GEHU - Génétique, UCL - (SLuc) Centre de génétique médicale UCL, Lantoine, Joséphine, Brysse, Anne, Dideberg, Vinciane, Claes, Kathleen, Symoens, Sofie, Coucke, Wim, Benoit, Valérie, Rombout, Sonia, De Rycke, Martine, Seneca, Sara, Van Laer, Lut, Wuyts, Wim, Corveleyn, Anniek, Van Den Bogaert, Kris, Rydlewski, Catherine, Wilkin, Françoise, Ravoet, Marie, Fastré, Elodie, Capron, Arnaud, Vandevelde, Nathalie Monique, UCL - SSS/DDUV/GEHU - Génétique, UCL - (SLuc) Centre de génétique médicale UCL, Lantoine, Joséphine, Brysse, Anne, Dideberg, Vinciane, Claes, Kathleen, Symoens, Sofie, Coucke, Wim, Benoit, Valérie, Rombout, Sonia, De Rycke, Martine, Seneca, Sara, Van Laer, Lut, Wuyts, Wim, Corveleyn, Anniek, Van Den Bogaert, Kris, Rydlewski, Catherine, Wilkin, Françoise, Ravoet, Marie, Fastré, Elodie, Capron, Arnaud, and Vandevelde, Nathalie Monique

Abstract

BACKGROUND: Participation in quality controls, also called external quality assessment (EQA) schemes, is required for the ISO15189 accreditation of the Medical Centers of Human Genetics. However, directives on the minimal frequency of participation in genetic quality control schemes are lacking or too heterogeneous, with a possible impact on health care quality. OBJECTIVE: The aim of this project is to develop Belgian guidelines on the frequency of participation in quality controls for genetic testing in the context of rare diseases. METHODS: A group of experts analyzed 90 EQA schemes offered by accredited providers and focused on analyses used for the diagnosis of rare diseases. On that basis, the experts developed practical recommendations about the minimal frequencies of participation of the Medical Centers of Human Genetics in quality controls and how to deal with poor performances and change management. These guidelines were submitted to the Belgian Accreditation Body and then reviewed and approved by the Belgian College of Human Genetics and Rare Diseases and by the National Institute for Health and Disability Insurance. RESULTS: The guidelines offer a decisional algorithm for the minimal frequency of participation in human genetics EQA schemes. This algorithm has been developed taking into account the scopes of the EQA schemes, the levels of experience, and the annual volumes of the Centers of Human Genetics in the performance of the tests considered. They include three key principles: (1) the recommended annual assessment of all genetic techniques and technological platforms, if possible through EQAs covering the technique, genotyping, and clinical interpretation; (2) the triennial assessment of the genotyping and interpretation of specific germline mutations and pharmacogenomics analyses; and (3) the documentation of actions undertaken in the case of poor performances and the participation to quality control the following year. The use of a Bayesian statist

Published
2021

27. CYSTIC DISEASE AND CILIOPATHIES

Author

Raaijmakers, Anke M.J., Mekahli, Djalila, Van Dyck, Maria, Corveleyn, Anniek, Allegaert, Karel, Deviendt, Koen, Kuypers, Dirk, Claes, Kathleen, and Levtchenko, Elena N.

Published
2014

28. Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Author

Walsh, Roddy, primary, Lahrouchi, Najim, additional, Tadros, Rafik, additional, Kyndt, Florence, additional, Glinge, Charlotte, additional, Postema, Pieter G., additional, Amin, Ahmad S., additional, Nannenberg, Eline A., additional, Ware, James S., additional, Whiffin, Nicola, additional, Mazzarotto, Francesco, additional, Škorić-Milosavljević, Doris, additional, Krijger, Christian, additional, Arbelo, Elena, additional, Babuty, Dominique, additional, Barajas-Martinez, Hector, additional, Beckmann, Britt M., additional, Bézieau, Stéphane, additional, Bos, J. Martijn, additional, Breckpot, Jeroen, additional, Campuzano, Oscar, additional, Castelletti, Silvia, additional, Celen, Candan, additional, Clauss, Sebastian, additional, Corveleyn, Anniek, additional, Crotti, Lia, additional, Dagradi, Federica, additional, de Asmundis, Carlo, additional, Denjoy, Isabelle, additional, Dittmann, Sven, additional, Ellinor, Patrick T., additional, Ortuño, Cristina Gil, additional, Giustetto, Carla, additional, Gourraud, Jean-Baptiste, additional, Hazeki, Daisuke, additional, Horie, Minoru, additional, Ishikawa, Taisuke, additional, Itoh, Hideki, additional, Kaneko, Yoshiaki, additional, Kanters, Jørgen K., additional, Kimoto, Hiroki, additional, Kotta, Maria-Christina, additional, Krapels, Ingrid P.C., additional, Kurabayashi, Masahiko, additional, Lazarte, Julieta, additional, Leenhardt, Antoine, additional, Loeys, Bart L., additional, Lundin, Catarina, additional, Makiyama, Takeru, additional, Mansourati, Jacques, additional, Martins, Raphaël P., additional, Mazzanti, Andrea, additional, Mörner, Stellan, additional, Napolitano, Carlo, additional, Ohkubo, Kimie, additional, Papadakis, Michael, additional, Rudic, Boris, additional, Molina, Maria Sabater, additional, Sacher, Frédéric, additional, Sahin, Hatice, additional, Sarquella-Brugada, Georgia, additional, Sebastiano, Regina, additional, Sharma, Sanjay, additional, Sheppard, Mary N., additional, Shimamoto, Keiko, additional, Shoemaker, M.Benjamin, additional, Stallmeyer, Birgit, additional, Steinfurt, Johannes, additional, Tanaka, Yuji, additional, Tester, David J., additional, Usuda, Keisuke, additional, van der Zwaag, Paul A., additional, Van Dooren, Sonia, additional, Van Laer, Lut, additional, Winbo, Annika, additional, Winkel, Bo G., additional, Yamagata, Kenichiro, additional, Zumhagen, Sven, additional, Volders, Paul G.A., additional, Lubitz, Steven A., additional, Antzelevitch, Charles, additional, Platonov, Pyotr G., additional, Odening, Katja E., additional, Roden, Dan M., additional, Roberts, Jason D., additional, Skinner, Jonathan R., additional, Tfelt-Hansen, Jacob, additional, van den Berg, Maarten P., additional, Olesen, Morten S., additional, Lambiase, Pier D., additional, Borggrefe, Martin, additional, Hayashi, Kenshi, additional, Rydberg, Annika, additional, Nakajima, Tadashi, additional, Yoshinaga, Masao, additional, Saenen, Johan B., additional, Kääb, Stefan, additional, Brugada, Pedro, additional, Robyns, Tomas, additional, Giachino, Daniela F., additional, Ackerman, Michael J., additional, Brugada, Ramon, additional, Brugada, Josep, additional, Gimeno, Juan R., additional, Hasdemir, Can, additional, Guicheney, Pascale, additional, Priori, Silvia G., additional, Schulze-Bahr, Eric, additional, Makita, Naomasa, additional, Schwartz, Peter J., additional, Shimizu, Wataru, additional, Aiba, Takeshi, additional, Schott, Jean-Jacques, additional, Redon, Richard, additional, Ohno, Seiko, additional, Probst, Vincent, additional, Arnaout, Alain Al, additional, Amelot, Mathieu, additional, Anselme, Frédéric, additional, Billon, Olivier, additional, Defaye, Pascal, additional, Dupuis, Jean-Marc, additional, Jesel, Laurence, additional, Laurent, Gabriel, additional, Maury, Philippe, additional, Pasquie, Jean-Luc, additional, Wiart, Francois, additional, Behr, Elijah R., additional, Barc, Julien, additional, and Bezzina, Connie R., additional

Published
2021
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29. Clinical characterization of the first Belgian SCN5A founder mutation cohort

Author

Sieliwonczyk, Ewa, primary, Alaerts, Maaike, additional, Robyns, Tomas, additional, Schepers, Dorien, additional, Claes, Charlotte, additional, Corveleyn, Anniek, additional, Willems, Rik, additional, Van Craenenbroeck, Emeline M, additional, Simons, Eline, additional, Nijak, Aleksandra, additional, Vandendriessche, Bert, additional, Mortier, Geert, additional, Vrints, Christiaan, additional, Koopman, Pieter, additional, Heidbuchel, Hein, additional, Van Laer, Lut, additional, Saenen, Johan, additional, and Loeys, Bart, additional

Published
2020
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30. Adult-Onset ANCA-Associated Vasculitis in SAVI: Extension of the Phenotypic Spectrum, Case Report and Review of the Literature

Author

Staels, Frederik, primary, Betrains, Albrecht, additional, Doubel, Peter, additional, Willemsen, Mathijs, additional, Cleemput, Vincent, additional, Vanderschueren, Steven, additional, Corveleyn, Anniek, additional, Meyts, Isabelle, additional, Sprangers, Ben, additional, Crow, Yanick J., additional, Humblet-Baron, Stephanie, additional, Liston, Adrian, additional, and Schrijvers, Rik, additional

Published
2020
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31. A double-edged sword

Author

Vandebotermet, Martijn, primary, Staels, Frederik, additional, Giovannozzi, Simone, additional, Delforge, Michel, additional, Tousseyn, Thomas, additional, Steelandt, Thomas, additional, Corveleyn, Anniek, additional, Meyts, Isabelle, additional, Maertens, Johan, additional, Yserbyt, Jonas, additional, and Schrijvers, Rik, additional

Published
2020
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32. P1799GENOTYPE-PHENOTYPE CORRELATION IN A PEDIATRIC ADPKD COHORT

Author

Van Giel, Dorien, primary, De Rechter, Stéphanie, primary, Breysem, Luc, primary, Hindryckx, An, primary, Janssens, Peter, primary, Decuypere, Jean-Paul, primary, Bammens, Bert, primary, Corveleyn, Anniek, primary, Férec, Claude, primary, Vennekens, Rudi, primary, Audrezet, Marie-Pierre, primary, Harris, Peter, primary, and Mekahli, Djalila, primary

Published
2020
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33. Fetal bovine serum impacts the observed N‐glycosylation defects in TMEM165 KO HEK cells

Author

Climer, Leslie, Morelle, Willy, De Bettignies, Geoffroy, Krzewinski Recchi, Marie-Ange, Lupashin, Vladimir, Medina-Cano, Daniel, Ucuncu, Ekin, Nguyen, Lam Son, Nicouleau, Michael, Lipecka, Joanna, Bizot, Jean-Charles, Thiel, Christian, Lefort, Nathalie, Faivre-Sarrailh, Catherine, Colleaux, Laurence, Guerrera, Ida Chiara, Cantagrel, Vincent, Lebredonchel, Elodie, Garat, Anne, Legrand, Dominique, Decool, Valérie, Klein, André, Ouzzine, Mohamed, Gasnier, Bruno, Potelle, Sven, Groux‐Degroote, Sophie, Cogez, Virginie, Noel, Maxence, Portier, Lucie, Solórzano, Carlos, Dall'Olio, Fabio, Steenackers, Agata, Mortuaire, Marlène, Gonzalez‐Pisfil, Mariano, Henry, Mélanie, Heliot, Laurent, Harduin-Lepers, Anne, Berthe, Audrey, Zaffino, Marie, Muller, claire, Houdou, Marine, Schulz, Céline, Bost, Frédéric, De Fay, Elia, Mazerbourg, Sabine, Flament, Stéphane, Mouajjah, Dounia, Ashikov, Angel, Abu Bakar, Nurulamin, Wen, Xiao-Yan, Niemeijer, Marco, Rodrigues Pinto Osorio, Glentino, Brand-Arzamendi, Koroboshka, Hasadsri, Linda, Hansikova, Hana, Raymond, Kimiyo, Ondruskova, Nina, Simon, Marleen, Pfundt, Rolph, Timal, Sharita, Beumers, Roel, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Linders, Peter, van den Bogaart, Geert, van Hijum, Sacha, Rodenburg, Richard, van den Heuvel, Lambertus, Van Spronsen, Francjan, Honzik, Tomas, van Scherpenzeel, Monique, Lefeber, Dirk, Mirjam, Wamelink, Han, Brunner, Helen, Mundy, Helen, Michelakakis, Peter, van Hasselt, Jiddeke, van de Kamp, Diego, Martinelli, Lars, Morkrid, Katja, Brocke Holmefjord, Jozef, Hertecant, Majid, Alfadhel, Kevin, Carpenter, Johann, te Water Naude, Delos, Maxime, Hellec, Charles, Fifre, Alexandre, Carpentier, Mathieu, Papy-Garcia, Dulce, Allain, Fabrice, Denys, Agnés, Gilormini, Pierre André, Lion, Cédric, Vicogne, Dorothée, Guerardel, Yann, Biot, Christophe, Witters, Peter, Breckpot, Jeroen, Preston, Graem, Morava, Eva, Rujano, Maria, Cannata Serio, Magda, Panasyuk, Ganna, Reunert, Janine, Hauser, Virginie, Park, Julien, Freisinger, Peter, Guida, Maria Clara, Maier, Esther, Wada, Yoshinao, Jäger, Stefanie, Krogan, Nevan, Kretz, Oliver, Nobre, Susana, Garcia, Paula, Quelhas, Dulce, Bird, Thomas, Raskind, Wendy, Schwake, Michael, Duvet, Sandrine, Marquardt, Thorsten, Simons, Matias, Blommaert, Eline, Péanne, Romain, Cherepanova, Natalia, Rymen, Daisy, Staels, Frederik, Jaeken, Jaak, Race, Valérie, Keldermans, Liesbeth, Souche, Erika, Corveleyn, Anniek, Sparkes, Rebecca, Bhattacharya, Kaustuv, Devalck, Christine, Schrijvers, Rik, Foulquier, Francois, Gilmore, Reid, Matthijs, Gert, Université Lille Nord de France (COMUE), Unité de Glycobiologie Structurale et Fonctionnelle UMR 8576 (UGSF), Université de Lille-Centre National de la Recherche Scientifique (CNRS), Variabilité génétique des défenses de l'organisme face à son environnement chimique, PRES Université Lille Nord de France-Université de Lille, Droit et Santé, ANR-15-CE14-0001,SOLV_CDG,Décryptage des patients CDG (Congenital Disorders of Glyvosylation) déficients en TMEM165 - de la compréhension des mécanismes moléculaires à une thérapie(2015), ANR-15-RAR3-0004,EURO-CDG-2,A European research network directed towards improving diagnosis and treatment of inborn glycosylation disorders.(2015), European Project: 643578,H2020,H2020-HCO-2014,E-Rare-3(2014), Unité de Glycobiologie Structurale et Fonctionnelle - UMR 8576 (UGSF), Université de Lille-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Recherche Agronomique (INRA), Institut National de la Recherche Agronomique (INRA)-Université de Lille-Centre National de la Recherche Scientifique (CNRS), Université de Lille, CNRS, Unité de Glycobiologie Structurale et Fonctionnelle UMR 8576 [UGSF], Unité de Glycobiologie Structurale et Fonctionnelle - UMR 8576 [UGSF], Centre Hospitalier Régional Universitaire [Lille] [CHRU Lille], Impact de l'environnement chimique sur la santé humaine - ULR 4483 [IMPECS], Baylor University, University of Arkansas for Medical Sciences [UAMS], Institut de Génétique Moléculaire de Montpellier (IGMM), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de psychiatrie et neurosciences (U894 / UMS 1266), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Key-Obs, JRC Institute for Energy and Transport (IET), European Commission - Joint Research Centre [Petten], Institut de Neurobiologie de la Méditerranée [Aix-Marseille Université] (INMED - INSERM U1249), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Plateforme Protéomique Necker [SFR Necker] (PPN - 3P5), Structure Fédérative de Recherche Necker (SFR Necker - UMS 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Impact de l'environnement chimique sur la santé humaine (IMPECS), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Université de Lille, Biologie cellulaire et moléculaire de la sécrétion (BCMS), Centre National de la Recherche Scientifique (CNRS), Departamento de Bioquímica, Instituto Nacional de Enfermedades Respiratorias, Department of Experimental, Diagnostic and Specialty Medicine (DIMES) (DIMES), Università di Bologna [Bologna] (UNIBO), Laboratoire de Physique des Lasers, Atomes et Molécules - UMR 8523 (PhLAM), Biophotonique Cellulaire Fonctionelle, Institut de Recherche Interdisciplinaire, Institut de Recherche Interdisciplinaire [Villeneuve d'Ascq] (IRI), Université de Lille, Sciences et Technologies-Université de Lille, Droit et Santé-Centre National de la Recherche Scientifique (CNRS), Centre méditerranéen de médecine moléculaire (C3M), Université Nice Sophia Antipolis (UNS), Université Côte d'Azur (UCA)-Université Côte d'Azur (UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Medicine & Physiology , University of Toronto, First Faculty of Medicine, Charles University [Prague], University Medical Center [Utrecht], Department of Human Genetics, Radboud University Medical Center [Nijmegen], Paediatrics, Beatrix Children's Hospital/University Medical Center Groningen, Université Toulouse 1 Capitole (UT1), Croissance cellulaire, réparation et régénération tissulaires (CRRET), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Centre National de la Recherche Scientifique (CNRS), Chimie Moléculaire et Formulation (EA 4478), Université de Lille, Sciences et Technologies, Unité de Catalyse et de Chimie du Solide - UMR 8181 (UCCS), Université d'Artois (UA)-Ecole Centrale de Lille-Ecole Nationale Supérieure de Chimie de Lille (ENSCL)-Université de Lille-Centre National de la Recherche Scientifique (CNRS), Department of Pediatrics, University Children's Hospital, Centre de recherche Croissance et signalisation (UMR_S 845), Reutlingen University, Department of General Pediatrics, Münster University Children Hospital, Molecular Diagnostics, Center for Human Genetics, Gasthuisberg, Katholieke Universiteit Leuven and Flanders Interuniversity Institute for Biotechnology 4, Leuven, Belgium, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Center for Human Genetics, and Laboratory of clinical immunology

Subjects
Glycosylation, Protein family, [SDV]Life Sciences [q-bio], Golgi Apparatus, FBS, manganese level, N‐glycosylation defects, TMEM165, Article, Antiporters, Glycomics, 03 medical and health sciences, chemistry.chemical_compound, symbols.namesake, Congenital Disorders of Glycosylation, 0302 clinical medicine, N-linked glycosylation, Genetics, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], Cation Transport Proteins, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, Manganese, 0303 health sciences, Ion Transport, HEK 293 cells, Serum Albumin, Bovine, Golgi apparatus, Embryonic stem cell, Cell biology, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biomolecules [q-bio.BM], carbohydrates (lipids), HEK293 Cells, chemistry, symbols, Calcium, 030217 neurology & neurosurgery, Fetal bovine serum
Abstract

TMEM165 is involved in a rare genetic human disease named TMEM165‐CDG (congenital disorders of glycosylation). It is Golgi localized, highly conserved through evolution and belongs to the uncharacterized protein family 0016 (UPF0016). The use of isogenic TMEM165 KO HEK cells was crucial in deciphering the function of TMEM165 in Golgi manganese homeostasis. Manganese is a major cofactor of many glycosylation enzymes. Severe Golgi glycosylation defects are observed in TMEM165 Knock Out Human Embryonic Kidney (KO HEK) cells and are rescued by exogenous manganese supplementation. Intriguingly, we demonstrate in this study that the observed Golgi glycosylation defect mainly depends on fetal bovine serum, particularly its manganese level. Our results also demonstrate that iron and/or galactose can modulate the observed glycosylation defects in TMEM165 KO HEK cells. While isogenic cultured cells are widely used to study the impact of gene defects on proteins' glycosylation patterns, these results emphasize the importance of the use of validated fetal bovine serum in glycomics studies. 43;2

Published
2019

34. Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

Author

Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Verheije, Rosalind, Kupchik, Gabriel S., Isidor, Bertrand, Kroes, Hester Y., Lynch, Sally Ann, Hawkes, Lara, Hempel, Maja, Gelb, Bruce D., Ghoumid, Jamal, D’Amours, Guylaine, Chandler, Kate, Dubourg, Christèle, Loddo, Sara, Tümer, Zeynep, Shaw-Smith, Charles, Nizon, Mathilde, Shevell, Michael, Van Hoof, Evelien, Anyane-Yeboa, Kwame, Cerbone, Gaetana, Clayton-Smith, Jill, Cogné, Benjamin, Corre, Pierre, Corveleyn, Anniek, De Borre, Marie, Hjortshøj, Tina Duelund, Fradin, Mélanie, Gewillig, Marc, Goldmuntz, Elizabeth, Hens, Greet, Lemyre, Emmanuelle, Journel, Hubert, Kini, Usha, Kortüm, Fanny, Le Caignec, Cedric, Novelli, Antonio, Odent, Sylvie, Petit, Florence, Revah-Politi, Anya, Stong, Nicholas, Strom, Tim M., van Binsbergen, Ellen, Devriendt, Koenraad, Breckpot, Jeroen, DDD Study, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Verheije, Rosalind, Kupchik, Gabriel S., Isidor, Bertrand, Kroes, Hester Y., Lynch, Sally Ann, Hawkes, Lara, Hempel, Maja, Gelb, Bruce D., Ghoumid, Jamal, D’Amours, Guylaine, Chandler, Kate, Dubourg, Christèle, Loddo, Sara, Tümer, Zeynep, Shaw-Smith, Charles, Nizon, Mathilde, Shevell, Michael, Van Hoof, Evelien, Anyane-Yeboa, Kwame, Cerbone, Gaetana, Clayton-Smith, Jill, Cogné, Benjamin, Corre, Pierre, Corveleyn, Anniek, De Borre, Marie, Hjortshøj, Tina Duelund, Fradin, Mélanie, Gewillig, Marc, Goldmuntz, Elizabeth, Hens, Greet, Lemyre, Emmanuelle, Journel, Hubert, Kini, Usha, Kortüm, Fanny, Le Caignec, Cedric, Novelli, Antonio, Odent, Sylvie, Petit, Florence, Revah-Politi, Anya, Stong, Nicholas, Strom, Tim M., van Binsbergen, Ellen, Devriendt, Koenraad, Breckpot, Jeroen, and DDD Study

Published
2019

35. Clinical characterization of the first Belgian SCN5A founder mutation cohort.

Author

Sieliwonczyk, Ewa, Alaerts, Maaike, Robyns, Tomas, Schepers, Dorien, Claes, Charlotte, Corveleyn, Anniek, Willems, Rik, Craenenbroeck, Emeline M Van, Simons, Eline, Nijak, Aleksandra, Vandendriessche, Bert, Mortier, Geert, Vrints, Christiaan, Koopman, Pieter, Heidbuchel, Hein, Laer, Lut Van, Saenen, Johan, Loeys, Bart, Van Craenenbroeck, Emeline M, and Van Laer, Lut

Subjects
GENETIC mutation, BRUGADA syndrome, MEMBRANE transport proteins, ELECTROCARDIOGRAPHY, PHENOTYPES
Abstract

Aims: We identified the first Belgian SCN5A founder mutation, c.4813 + 3_4813 + 6dupGGGT. To describe the clinical spectrum and disease severity associated with this mutation, clinical data of 101 SCN5A founder mutation carriers and 46 non-mutation carrying family members from 25 Belgian families were collected.Methods and Results: The SCN5A founder mutation was confirmed by haplotype analysis. The clinical history and electrocardiographic parameters of the mutation carriers and their family members were gathered and compared. A cardiac electrical abnormality was observed in the majority (82%) of the mutation carriers. Cardiac conduction defects, defined as PR or QRS prolongation on electrocardiogram (ECG), were most frequent, occurring in 65% of the mutation carriers. Brugada syndrome (BrS) was the second most prevalent phenotype identified in 52%, followed by atrial dysrythmia in 11%. Overall, 33% of tested mutation carriers had a normal sodium channel blocker test. Negative tests were more common in family members distantly related to the proband. Overall, 23% of the mutation carriers were symptomatic, with 8% displaying major adverse events. As many as 13% of the patients tested with a sodium blocker developed ventricular arrhythmia. One family member who did not carry the founder mutation was diagnosed with BrS.Conclusion: The high prevalence of symptoms and sensitivity to sodium channel blockers in our founder population highlights the adverse effect of the founder mutation on cardiac conduction. The large phenotypical heterogeneity, variable penetrance, and even non-segregation suggest that other genetic (and environmental) factors modify the disease expression, severity, and outcome in these families. [ABSTRACT FROM AUTHOR]

Published
2021
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36. Inherited p40phox deficiency differs from classic chronic granulomatous disease

Author

van de Geer, Annemarie, primary, Nieto-Patlán, Alejandro, additional, Kuhns, Douglas B., additional, Tool, Anton T.J., additional, Arias, Andrés A., additional, Bouaziz, Matthieu, additional, de Boer, Martin, additional, Franco, José Luis, additional, Gazendam, Roel P., additional, van Hamme, John L., additional, van Houdt, Michel, additional, van Leeuwen, Karin, additional, Verkuijlen, Paul J.H., additional, van den Berg, Timo K., additional, Alzate, Juan F., additional, Arango-Franco, Carlos A., additional, Batura, Vritika, additional, Bernasconi, Andrea R., additional, Boardman, Barbara, additional, Booth, Claire, additional, Burns, Siobhan O., additional, Cabarcas, Felipe, additional, Bensussan, Nadine Cerf, additional, Charbit-Henrion, Fabienne, additional, Corveleyn, Anniek, additional, Deswarte, Caroline, additional, Azcoiti, María Esnaola, additional, Foell, Dirk, additional, Gallin, John I., additional, Garcés, Carlos, additional, Guedes, Margarida, additional, Hinze, Claas H., additional, Holland, Steven M., additional, Hughes, Stephen M., additional, Ibañez, Patricio, additional, Malech, Harry L., additional, Meyts, Isabelle, additional, Moncada-Velez, Marcela, additional, Moriya, Kunihiko, additional, Neves, Esmeralda, additional, Oleastro, Matias, additional, Perez, Laura, additional, Rattina, Vimel, additional, Oleaga-Quintas, Carmen, additional, Warner, Neil, additional, Muise, Aleixo M., additional, López, Jeanet Serafín, additional, Trindade, Eunice, additional, Vasconcelos, Julia, additional, Vermeire, Séverine, additional, Wittkowski, Helmut, additional, Worth, Austen, additional, Abel, Laurent, additional, Dinauer, Mary C., additional, Arkwright, Peter D., additional, Roos, Dirk, additional, Casanova, Jean-Laurent, additional, Kuijpers, Taco W., additional, and Bustamante, Jacinta, additional

Published
2018
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39. Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings

Author

Louw, Jacoba J., primary, Nunes Bastos, Ricardo, additional, Chen, Xiaowen, additional, Verdood, Céline, additional, Corveleyn, Anniek, additional, Jia, Yaojuan, additional, Breckpot, Jeroen, additional, Gewillig, Marc, additional, Peeters, Hilde, additional, Santoro, Massimo M., additional, Barr, Francis, additional, and Devriendt, Koenraad, additional

Published
2018
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40. S1. A prospective study of referrals from the Irish Traveller community to the National Centre for Inherited Metabolic Disorders

Author

Murphy, AM, Halling, C, Lynch, SA, Monavari, AA, Harty, S, Crushell, E, Treacy, EP, Crawford, H, McKee, SA, Chukwu, J, Taha, A, Stewart, Fiona J, Ryan, Anthony W, Hughes, David, Ryan, Thomas, McManus, Ross, Stoneking, Mark, Ó'Dúshláine, Colm, Dolan, Ciara, Stanton, Alice, Croke, David, Kalviainen, Reetta, Berkovic, Samuel, O'Brien, Terry, Sisodiya, Sanjay, Goldstein, David, Morris, Derek, Delanty, Norman, Cavalleri, Gianpiero, Gilks, William P., Allott, Emma, Donohoe, Gary, Waddington, John L., Gill, Michael, Corvin, Aiden P., Morris, Derek W., McGibbon, D, Benson, C, Meenagh, G, Wright, G, Doherty, M, Hughes, A, McErlean, Seona, Scott, Natalie, Worthington, Jenny, Brown, Gillian, Falchi, Adriana, Berrar, Daniel, Bjourson, Anthony J, McLellan, Andrew, Wynne, Freda, Ball, Melanie, Moore, Tom, Barton, David E., Hastings, Ros J., Berwouts, Sarah, Brady, Christine, Corbisier, Philippe, Corveleyn, Anniek, Elles, Rob, Fowler, Brian, Gancberg, David, Litynski, Piotr, Macek, Milan, Malburg, Ute, Matthijs, Gert, Morris, Michael, Mueller, Clemens, Nagels, Nick, Quellhorst-Pawley, Bettina, Stambergova, Alexandra, Vermeesch, Jan, Vickers, Kate, Dequeker, Elisabeth, Magee, Alex, Lynch, Sally Ann, Offiah, Amaka, Walsh, J, Lambert, D, Baldridge, DM, Morello, R, Eyre, D, Lee, B, Green, AJ, O'Brien, Kirsty, Parle-McDermott, Anne, Langseth, A, Doherty, E, Nestor, T, Lynch, T, Asmus, F, Mary, MD, Mankan, Arun Kumar, Daly, Jacqueline, Caraher, Emma, Kelleher, Dermot, Ó hIcí, Brónagh, Gould, Edith, Kenny, Elaine, Pinto, Carlos, Corvin, Aiden, Schouest, Katherine, Coghlan, Avril, Spillane, Charles, Dash, DP, George, s, Silvestri, G, Jackson, J, Frazer, D, Hughes, AE, Willoughby, C, Donnelly, Deirdre, McKee, Shane, Allott, Emma H., Mitchell, Kevin J., Skehan, EB, Abdulrahim, M, Parfrey, NP, Hand, CK, Colleran, G, Rowan, A, Miller, N, Sawyer, E, Curran, C, Kerin, M, Tomlinson, I, McKay, GJ, Orr, N, Chakravarthy, U, Fitzpatrick, Helen, Clarke, Gillian, Doherty, Aidan, Shepherd, CW, McKee, S, Morrison, PJ, Kelly, Johanna, Conneally, Eibhlin, Vandenburgh, Elizabeth, Meaney, Karen, Hegarty, KG, Daly, M, Shanahan, F, Molloy, MG, Laing, Mary E, Dicker, Patrick, Ho, Wen Lyn, Moloney, Fergal J, Murphy, Gillian M, Conlon, Peter, Whitehead, Alexander S, Shields, Denis C, O'Shea, Rosie, Treacy, Eileen, Murphy, Anne Marie, Lambert, Deborah, Carroll, N, Cahill, S, O'Brien, K, Scott, JM, Parle-McDermott, A, Dabir, Tabib, McCrossan, Brian, Sands, A, Sweeney, L, Magee, A, Graham, Alistair N, McDevitt, Trudi, King, Caitriona, Rogers, Melissa, Roring, Solvig, McQuaid, Shirley, Barton, David E, Smith, G, McManus, D, McConnell, V, Crowley, VEF, Lim, K, Darby, C, Collison, C, Balfe, A, Heggarty, S, Crowley, Vivion EF, Darby, Cindy, Whatley, Sharon, Badminton, Mike, Meng, W, Patterson, CC, Belton, C, Kamaruddin, MS, Horan, PG, Kee, F, McKeown, PP, Cassidy, F, Zhao, C, Badger, J, Delaney, C, Mooney, L, Roche, S, McKeon, P, Dobrin, SE, Butler, Aileen, McManus, David, Jones, June, and Clarkson, Moya

Subjects
Poster Presentations, Abstracts, Spoken Papers
Published
2008

43. Erratum: Guidelines for diagnostic next-generation sequencing

Author

Matthijs, Gert, primary, Souche, Erika, additional, Alders, Mariëlle, additional, Corveleyn, Anniek, additional, Eck, Sebastian, additional, Feenstra, Ilse, additional, Race, Valérie, additional, Sistermans, Erik, additional, Sturm, Marc, additional, Weiss, Marjan, additional, Yntema, Helger, additional, Bakker, Egbert, additional, Scheffer, Hans, additional, and Bauer, Peter, additional

Published
2016
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45. The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects.

Author

UCL - (SLuc) Service de cardiologie pédiatrique, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, Jia, Yaojuan, Louw, Jacoba J, Breckpot, Jeroen, Callewaert, Bert, Barréa, Catherine, Sznajer, Yves, Gewillig, Marc, Souche, Erika, Dehaspe, Luc, Vermeesch, Joris Robert, Lambrechts, Diether, Devriendt, Koenraad, Corveleyn, Anniek, UCL - (SLuc) Service de cardiologie pédiatrique, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, Jia, Yaojuan, Louw, Jacoba J, Breckpot, Jeroen, Callewaert, Bert, Barréa, Catherine, Sznajer, Yves, Gewillig, Marc, Souche, Erika, Dehaspe, Luc, Vermeesch, Joris Robert, Lambrechts, Diether, Devriendt, Koenraad, and Corveleyn, Anniek

Abstract

To determine the diagnostic value of massive parallel sequencing of a panel of known cardiac genes in familial nonsyndromic congenital heart defects (CHD), targeted sequencing of the coding regions of 57 genes previously implicated in CHD was performed in 36 patients from 13 nonsyndromic CHD families with probable autosomal dominant inheritance. Following variant analysis and Sanger validation, we identified six potential disease causing variants in three genes (MYH6, NOTCH1, and TBX5), which may explain the defects in six families. Several problematic situations were encountered when performing genotype-phenotype correlations in the families to confirm the causality of these variants. In conclusion, by screening known CHD-associated genes in well-selected nonsyndromic CHD families and cautious variant interpretation, potential causative variants were identified in less than half of the families (6 out of 13; 46%). Variant interpretation remains a major challenge reflecting the complex genetic cause of CHD.

Published
2015

46. Genotype-phenotype relationship and risk stratification in loss-of-function SCN5A mutation carriers.

Author

Robyns, Tomas, Nuyens, Dieter, Vandenberk, Bert, Kuiperi, Cuno, Corveleyn, Anniek, Breckpot, Jeroen, Garweg, Christophe, Ector, Joris, and Willems, Rik

Abstract

Introduction: Loss-of-function (LoF) mutations in the SCN5A gene cause multiple phenotypes including Brugada Syndrome (BrS) and a diffuse cardiac conduction defect. Markers of increased risk for sudden cardiac death (SCD) in LoF SCN5A mutation carriers are ill defined. We hypothesized that late potentials and fragmented QRS would be more prevalent in SCN5A mutation carriers compared to SCN5A-negative BrS patients and evaluated risk markers for SCD in SCN5A mutation carriers.Methods: We included all SCN5A loss-of-function mutation carriers and SCN5A-negative BrS patients from our center. A combined arrhythmic endpoint was defined as appropriate ICD shock or SCD.Results: Late potentials were more prevalent in 79 SCN5A mutation carriers compared to 39 SCN5A-negative BrS patients (66% versus 44%, p = .021), while there was no difference in the prevalence of fragmented QRS. PR interval prolongation was the only parameter that predicted the presence of a SCN5A mutation in BrS (OR 1.08; p < .001). Four SCN5A mutation carriers, of whom three did not have a diagnostic type 1 ECG either spontaneously or after provocation with a sodium channel blocker, reached the combined arrhythmic endpoint during a follow-up of 44 ± 52 months resulting in an annual incidence rate of 1.37%.Conclusion: LP were more frequently observed in SCN5A mutation carriers, while fQRS was not. In SCN5A mutation carriers, the annual incidence rate of SCD was non-negligible, even in the absence of a spontaneous or induced type 1 ECG. Therefore, proper follow-up of SCN5A mutation carriers without Brugada syndrome phenotype is warranted. [ABSTRACT FROM AUTHOR]

Published
2018
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47. Heterozygous loss-of-function variants of MEIS2cause a triad of palatal defects, congenital heart defects, and intellectual disability

Author

Verheije, Rosalind, Kupchik, Gabriel S., Isidor, Bertrand, Kroes, Hester Y., Lynch, Sally Ann, Hawkes, Lara, Hempel, Maja, Gelb, Bruce D., Ghoumid, Jamal, D’Amours, Guylaine, Chandler, Kate, Dubourg, Christèle, Loddo, Sara, Tümer, Zeynep, Shaw-Smith, Charles, Nizon, Mathilde, Shevell, Michael, Van Hoof, Evelien, Anyane-Yeboa, Kwame, Cerbone, Gaetana, Clayton-Smith, Jill, Cogné, Benjamin, Corre, Pierre, Corveleyn, Anniek, De Borre, Marie, Hjortshøj, Tina Duelund, Fradin, Mélanie, Gewillig, Marc, Goldmuntz, Elizabeth, Hens, Greet, Lemyre, Emmanuelle, Journel, Hubert, Kini, Usha, Kortüm, Fanny, Le Caignec, Cedric, Novelli, Antonio, Odent, Sylvie, Petit, Florence, Revah-Politi, Anya, Stong, Nicholas, Strom, Tim M., van Binsbergen, Ellen, Devriendt, Koenraad, and Breckpot, Jeroen

Abstract

Deletions on chromosome 15q14 are a known chromosomal cause of cleft palate, typically co-occurring with intellectual disability, facial dysmorphism, and congenital heart defects. The identification of patients with loss-of-function variants in MEIS2, a gene within this deletion, suggests that these features are attributed to haploinsufficiency of MEIS2. To further delineate the phenotypic spectrum of the MEIS2-related syndrome, we collected 23 previously unreported patients with either a de novo sequence variant in MEIS2(9 patients), or a 15q14 microdeletion affecting MEIS2(14 patients). All but one de novo MEIS2variant were identified by whole-exome sequencing. One variant was found by targeted sequencing of MEIS2in a girl with a clinical suspicion of this syndrome. In addition to the triad of palatal defects, heart defects, and developmental delay, heterozygous loss of MEIS2results in recurrent facial features, including thin and arched eyebrows, short alae nasi, and thin vermillion. Genotype–phenotype comparison between patients with 15q14 deletions and patients with sequence variants or intragenic deletions within MEIS2, showed a higher prevalence of moderate-to-severe intellectual disability in the former group, advocating for an independent locus for psychomotor development neighboring MEIS2.

Published
2019
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50. Guidelines for diagnostic next-generation sequencing

Author

Matthijs, Gert, primary, Souche, Erika, additional, Alders, Mariëlle, additional, Corveleyn, Anniek, additional, Eck, Sebastian, additional, Feenstra, Ilse, additional, Race, Valérie, additional, Sistermans, Erik, additional, Sturm, Marc, additional, Weiss, Marjan, additional, Yntema, Helger, additional, Bakker, Egbert, additional, Scheffer, Hans, additional, and Bauer, Peter, additional

Published
2015
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