PCDH19 in Males: Are Hemizygous Variants Linked to Autism?

ABSTRACT:

Background

Autism spectrum disorder (ASD) is a complex developmental disability that impairs the social communication and interaction of affected individuals and leads to restricted or repetitive behaviors or interests. ASD is genetically heterogeneous, with inheritable and de novo genetic variants in more than hundreds of genes contributing to the disease. However, these account for only around 20% of cases, while the molecular basis of the majority of cases remains unelucidated as of yet.

Material and methods

Two unrelated Lebanese patients, a 7-year-old boy (patient A) and a 4-year-old boy (patient B), presenting with ASD were included in this study. Whole-exome sequencing (WES) was carried out for these patients to identify the molecular cause of their diseases.

Resul

SUBMITTER: Chouery E 

PROVIDER: S-EPMC10048232 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature