Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.

ABSTRACT:

Background

Autism spectrum disorder (ASD), a developmental disorder of early childhood onset, affects males four times more frequently than females, suggesting a role for the sex chromosomes. In this study, we describe a family with ASD in which a predicted pathogenic nonsense mutation in the X-chromosome gene RAB39B segregates with ASD phenotype.

Methods

Clinical phenotyping, microarray, and whole genome sequencing (WGS) were performed on the five members of this family. Maternal and female sibling X inactivation ratio was calculated, and phase was investigated. Mutant-induced pluripotent stem cells engineered for an exon 2 nonsense mutation were generated and differentiated into cortical neurons for expression and pathway analyses.

Results

Two males with an i

SUBMITTER: Woodbury-Smith M 

PROVIDER: S-EPMC5679329 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature