Whole Exome Sequencing of a Multiplex Family of Indian Origin Identifies Variants in the <i>RAI1</i> and <i>FLII</i> Genes within the 17p11.2 Region in Siblings with Autism and Smith Magenis Syndrome.

ABSTRACT:

Introduction

Autism spectrum disorders (ASDs) are complex neurodevelopmental disorders characterized by restrictive repetitive behavior and impairment in social and communication skills. They are extremely heterogeneous with a strong genetic preponderance. They are clinically highly convoluted, presenting with multiple comorbid conditions and syndromic features. More than 100 genes have been identified to date.

Method

Whole exome sequencing (WES) has emerged as a valuable tool in evaluating the genetic underpinnings of ASDs, be it the syndromic or the idiopathic variants. In the current study, we performed WES on a multiplex family of Indian origin to investigate the disease etiology in the siblings (S1 [Female] and S2 [Male]) exhibiting ASD syndromic features, at both clini

SUBMITTER: Srividhya D 

PROVIDER: S-EPMC11614432 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature