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New SMARCA2 Mutation in a Patient with Nicolaides–Baraitser Syndrome and Myoclonic Astatic Epilepsy

Lookup NU author(s): Dr Rhys ThomasORCiD

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

Abstract

© 2016 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc. We report a de novo SMARCA2 missense mutation discovered on exome sequencing in a patient with myoclonic astatic epilepsy, leading to reassessment and identification of Nicolaides–Baraitser syndrome. This de novo SMARCA2 missense mutation c.3721C>G, p.Gln1241Glu is the only reported mutation on exon 26 outside the ATPase domain of SMARCA2 to be associated with Nicolaides–Baraitser syndrome and adds to chromatin remodeling as a pathway for epileptogenesis. © 2016 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc.

Publication metadata

Author(s): Tang S, Hughes E, Lascelles K, Simpson MA, Pal DK, Marini C, Guerrini R, Neubauer B, Korff CM, Craiu D, Pal D, Caglayan H, Helbig I, De Jonghe P, Thomas R, Moller RS, Sisodiya S, von Spiczak S, Weckhuysen S, Talvik T

Publication type: Article

Publication status: Published

Journal: American Journal of Medical Genetics, Part A

Year: 2017

Volume: 173

Issue: 1

Pages: 195-199

Print publication date: 01/01/2017

Online publication date: 26/09/2016

Acceptance date: 01/08/2016

Date deposited: 07/09/2017

ISSN (print): 1552-4825

ISSN (electronic): 1552-4833

Publisher: Wiley-Liss Inc.

URL: https://doi.org/10.1002/ajmg.a.37935

DOI: 10.1002/ajmg.a.37935

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