Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder.

Behrang Mahjani Silvia De RubeisChristina Gustavsson MahjaniMaureen MulhernXinyi XuLambertus Klei F Kyle SatterstromJack FuMichael E TalkowskiAbraham ReichenbergSven Sandin Christina M Hultman Dorothy E Grice Kathryn Roeder Bernie Devlin Joseph D Buxbaum

Published in: Molecular autism (2021)

In this epidemiological sample, rare pdSNV were more common than pdCNV and the combined yield of potentially damaging variation was substantial at 27%. The results provide compelling rationale for the use of high-throughout sequencing as part of routine clinical workup for ASD and support the development of precision medicine in ASD.

Keyphrases

autism spectrum disorder
attention deficit hyperactivity disorder
intellectual disability
risk factors
single cell
clinical practice
clinical trial
gene expression