Investigation the Relationship of Autism Spectrum Disorder and FOXP2, GRIN2B, KATNAL2, GABRA4 Genes.

ABSTRACT:

Introduction

Autism spectrum disorder is a genetically and phenotypically heterogeneous group. Genetic studies carried out to date have suggested that both common and rare genetic variants play a role in the etiology of this disorder. In our study, we aimed to investigate the effect of FOXP2, GRIN2B, KATNAL2 and GABRA4 gene variants in the pathogenesis of autism spectrum disorder.

Method

In our prospectively planned study, all exons and exon-intron junctions of FOXP2, GRIN2B, KATNAL2 and GABRA4 genes were screened by next generation sequencing analysis in 96 patients who diagnosed with autism spectrum disorder.

Results

In our study, the average age was 10.1 and the male/female ratio was 75/21. Pathogenic or likely pathogenic variants were n

SUBMITTER: Yalcintepe S 

PROVIDER: S-EPMC8419723 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature