New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy.
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.
King's College London, London, United Kingdom.|King's Health Partners, London, United Kingdom.
S
S
Tang
King's Health Partners, London, United Kingdom.
E
E
Hughes
King's Health Partners, London, United Kingdom.
K
K
Lascelles
King's College London, London, United Kingdom.
M A
MA
Simpson
King's College London, London, United Kingdom.|King's Health Partners, London, United Kingdom.
D K
DK
Pal
D000483:Alleles; D055028:Comparative Genomic Hybridization; D004252:DNA Mutational Analysis; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000175:diagnosis* / Q000235:genetics*; D005091:Exons; D019066:Facies; D005260:Female; D005532:Foot Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007039:Hypotrichosis / Q000175:diagnosis* / Q000235:genetics*; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D009154:Mutation; D010641:Phenotype; D014157:Transcription Factors / Q000235:genetics*
C084011:SMARCA2 protein, human; D014157:Transcription Factors
Nicolaides-Baraitser syndrome; SMARCA2; myoclonic astatic epilepsy
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