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

Marta Codina-SolaMar Costa-RogerDebora Pérez-GarcíaRaquel FloresMaria Gabriela Palacios-VerdúIvon Cusco Luis Alberto Pérez-Jurado

Published in: Journal of medical genetics (2019)

The increased susceptibility to ASD in patients with WBS might be due to additive effects of the common WBS deletion, inherited and de novo rare sequence variants in ASD-related genes elsewhere in the genome, with higher burden of deleterious mutations required for females, and possible hypomorphic variants in the hemizygous allele or cis-acting mechanisms on imprinting.

Keyphrases

autism spectrum disorder
copy number
attention deficit hyperactivity disorder
intellectual disability
genome wide
dna methylation
case report
risk factors
working memory