Association Analysis of Rare CNTN5 Variants With Autism Spectrum Disorder in a Japanese Population.

ABSTRACT:

Background

Contactin-5 (CNTN5), a neural adhesion molecule involved in synaptogenesis and synaptic maturation in the auditory pathway, has been associated with the pathophysiology of autism spectrum disorder (ASD), particularly hyperacusis. To investigate the role of rare CNTN5 variants in ASD susceptibility, we performed resequencing and association analysis in a Japanese population.

Methods

We resequenced the CNTN5 coding regions in 302 patients with ASD and prioritized rare putatively damaging variants. The prioritized variants were then genotyped in 313 patients with ASD and 1065 controls. Subsequently, we conducted an association study of selected variants with ASD in 614 patients with ASD and 61 057 controls. Clinical data were reviewed for patients carrying prioritize

SUBMITTER: Hadi AF 

PROVIDER: S-EPMC11781355 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature