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

Am J Med Genet A. 2017 Jan;173(1):195-199. doi: 10.1002/ajmg.a.37935. Epub 2016 Sep 26.

Abstract

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.

Keywords: Nicolaides-Baraitser syndrome; SMARCA2; myoclonic astatic epilepsy.

Publication types

  • Case Reports

MeSH terms

  • Alleles
  • Comparative Genomic Hybridization
  • DNA Mutational Analysis
  • Electroencephalography
  • Epilepsies, Myoclonic / diagnosis*
  • Epilepsies, Myoclonic / genetics*
  • Exons
  • Facies
  • Female
  • Foot Deformities, Congenital / diagnosis*
  • Foot Deformities, Congenital / genetics*
  • Genotype
  • Humans
  • Hypotrichosis / diagnosis*
  • Hypotrichosis / genetics*
  • Infant
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics*
  • Magnetic Resonance Imaging
  • Mutation*
  • Phenotype
  • Transcription Factors / genetics*

Substances

  • SMARCA2 protein, human
  • Transcription Factors

Supplementary concepts

  • Nicolaides Baraitser syndrome