Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.

ABSTRACT:

Background

The hallmark of the neurobehavioural phenotype of Williams-Beuren syndrome (WBS) is increased sociability and relatively preserved language skills, often described as opposite to autism spectrum disorders (ASD). However, the prevalence of ASD in WBS is 6-10 times higher than in the general population. We have investigated the genetic factors that could contribute to the ASD phenotype in individuals with WBS.

Methods

We studied four males and four females with WBS and a confirmed diagnosis of ASD by the Autism Diagnostic Interview-Revised. We performed a detailed molecular characterisation of the deletion and searched for genomic variants using exome sequencing.

Results

A de novo deletion of 1.55 Mb (6 cases) or 1.83 Mb (2 cases) at 7q11.23 was detected, bei

SUBMITTER: Codina-Sola M 

PROVIDER: S-EPMC6929708 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature