New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy

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• 作者：S. Tang ; E. Hughes ; K. Lascelles ; EuroEPINOMICS RES myoclonic astatic epilepsy working group ; M. A. Simpson and D. K. Pal
• 刊名：American Journal of Medical Genetics Part A
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：173
• 期：1
• 页码：195-199
• 全文大小：876K
• ISSN：1552-4833

文摘

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.