Whole-genome sequencing in a family with twin boys with autism and intellectual disability suggests multimodal polygenic risk.

ABSTRACT: Over the past decade, a focus on de novo mutations has rapidly accelerated gene discovery in autism spectrum disorder (ASD), intellectual disability (ID), and other neurodevelopmental disorders (NDDs). However, recent studies suggest that only a minority of cases are attributable to de novo mutations, and instead these disorders often result from an accumulation of various forms of genetic risk. Consequently, we adopted an inclusive approach to investigate the genetic risk contributing to a case of male monozygotic twins with ASD and ID. At the time of the study, the probands were 7 yr old and largely nonverbal. Medical records indicated a history of motor delays, sleep difficulties, and significant cognitive deficits. Through whole-genome sequencing of the probands and their parents, we u

SUBMITTER: McKenna B 

PROVIDER: S-EPMC6318775 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature