A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Autor: Ann Seman, Rixa Woitschach, Duygu Selcen, Divya Nair, Lauren Gunderson, Mahim Jain, Sha Tang, Giuseppe Zampino, Julien L. Marcadier, Marielle Alders, Jason Pinner, Melanie Napier, Linda Hasadsri, Marina Macchiaiolo, Alyssa Blesson, Pavel N. Pichurin, Joseph T. Alaimo, Arjan Bouman, Philippe M. Campeau, Catherine Karimov, Chitra Prasad, Anne Dieux-Coeslier, Nicole L. Bertsch, Bernd Wollnik, Janine Altmüller, Zöe Powis, Holly Dubbs, Tahsin Stefan Barakat, Gregory M. Cooper, Kristen J. Rasmussen, Perrine Brunelle, Patrick R. Blackburn, Erica D. Smith, Jeff M. Milunsky, Katja Kloth, E. Martina Bebin, Lot Snijders Blok, Knut Brockmann, Karin Weiss, Xilma R. Ortiz-Gonzalez, Danna Gal, Dong Li, Francesca Clementina Radio, Joan M. Stoler, Elaine H. Zackai, Jiddeke M. van de Kamp, Deepali N. Shinde, Huifang Yan, Thomas Smol, Alejandro Ferrer, Dagmar Weise, Baiba Lace, Deborah L. Renaud, Lauren E. Bartik, Beth Keena, Michelle L. Thompson, Carol J Saunders, Theodore G. Drivas, Elizabeth J. Bhoj, Eric T. Rush, Marco Tartaglia, Eric W. Klee, Margit Burmeister, Jingmin Wang, Jonas Denecke
Přispěvatelé: Clinical genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Gastroenterology Endocrinology Metabolism, Human Genetics, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, Clinical Genetics
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Zdroj: European Journal of Human Genetics
European Journal of Human Genetics, 28(10), 1422-1431. Nature Publishing Group
European journal of human genetics, 28(10), 1422-1431. Nature Publishing Group
Paediatrics Publications
Drivas, T G, Li, D, Nair, D, Alaimo, J T, Alders, M, Altmüller, J, Barakat, T S, Bebin, E M, Bertsch, N L, Blackburn, P R, Blesson, A, Bouman, A M, Brockmann, K, Brunelle, P, Burmeister, M, Cooper, G M, Denecke, J, Dieux-Coëslier, A, Dubbs, H, Ferrer, A, Gal, D, Bartik, L E, Gunderson, L B, Hasadsri, L, Jain, M, Karimov, C, Keena, B, Klee, E W, Kloth, K, Lace, B, Macchiaiolo, M, Marcadier, J L, Milunsky, J M, Napier, M P, Ortiz-Gonzalez, X R, Pichurin, P N, Pinner, J, Powis, Z, Prasad, C, Radio, F C, Rasmussen, K J, Renaud, D L, Rush, E T, Saunders, C, Selcen, D, Seman, A R, Shinde, D N, Smith, E D, Smol, T, Snijders Blok, L, Stoler, J M, Tang, S, Tartaglia, M, Thompson, M L, van de Kamp, J M, Wang, J, Weise, D, Weiss, K, Woitschach, R, Wollnik, B, Yan, H, Zackai, E H, Zampino, G, Campeau, P & Bhoj, E 2020, ' A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome ', European Journal of Human Genetics, vol. 28, no. 10, pp. 1422-1431 . https://doi.org/10.1038/s41431-020-0654-4
ISSN: 1476-5438
1018-4813
DOI: 10.1038/s41431-020-0654-4
Popis: There has been one previous report of a cohort of patients with variants in Chromodomain Helicase DNA-binding 3 (CHD3), now recognized as Snijders Blok-Campeau syndrome. However, with only three previously-reported patients with variants outside the ATPase/helicase domain, it was unclear if variants outside of this domain caused a clinically similar phenotype. We have analyzed 24 new patients with CHD3 variants, including nine outside the ATPase/helicase domain. All patients were detected with unbiased molecular genetic methods. There is not a significant difference in the clinical or facial features of patients with variants in or outside this domain. These additional patients further expand the clinical and molecular data associated with CHD3 variants. Importantly we conclude that there is not a significant difference in the phenotypic features of patients with various molecular disruptions, including whole gene deletions and duplications, and missense variants outside the ATPase/helicase domain. This data will aid both clinical geneticists and molecular geneticists in the diagnosis of this emerging syndrome.
Databáze: OpenAIRE
Externí odkaz: