Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant.

N LebrunP ParentJ GendrasP BilluartK PoirierThierry Bienvenu

Published in: Clinical genetics (2017)

Germline mosaicism for a novel missense variant p.Thr645Met located in the SNF2-related ATP dependent helicase domain of CHD2 in 2 affected siblings with autism spectrum disorder.

Keyphrases

intellectual disability
autism spectrum disorder
dna repair
attention deficit hyperactivity disorder
genome wide
copy number
tyrosine kinase
free survival
dna damage
transcription factor