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

Item Type:	Article
Title:	A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Creators Name:	Drivas, T.G. and Li, D. and Nair, D. and Alaimo, J.T. and Alders, M. and Altmüller, J. and Barakat, T.S. and Bebin, E.M. and Bertsch, N.L. and Blackburn, P.R. and Blesson, A. and Bouman, A.M. and Brockmann, K. and Brunelle, P. and Burmeister, M. and Cooper, G.M. and Denecke, J. and Dieux-Coëslier, A. and Dubbs, H. and Ferrer, A. and Gal, D. and Bartik, L.E. and Gunderson, L.B. and Hasadsri, L. and Jain, M. and Karimov, C. and Keena, B. and Klee, E.W. and Kloth, K. and Lace, B. and Macchiaiolo, M. and Marcadier, J.L. and Milunsky, J.M. and Napier, M.P. and Ortiz-Gonzalez, X.R. and Pichurin, P.N. and Pinner, J. and Powis, Z. and Prasad, C. and Radio, F.C. and Rasmussen, K.J. and Renaud, D.L. and Rush, E.T. and Saunders, C. and Selcen, D. and Seman, A.R. and Shinde, D.N. and Smith, E.D. and Smol, T. and Snijders Blok, L. and Stoler, J.M. and Tang, S. and Tartaglia, M. and Thompson, M.L. and van de Kamp, J.M. and Wang, J. and Weise, D. and Weiss, K. and Woitschach, R. and Wollnik, B. and Yan, H. and Zackai, E.H. and Zampino, G. and Campeau, P. and Bhoj, E.
Abstract:	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.
Keywords:	Autism Spectrum Disorders, Genetic Testing
Source:	European Journal of Human Genetics
ISSN:	1018-4813
Publisher:	Nature Publishing Group
Volume:	28
Number:	10
Page Range:	1422-1431
Date:	October 2020
Official Publication:	https://doi.org/10.1038/s41431-020-0654-4
PubMed:	View item in PubMed

Repository Staff Only: item control page