Comprehensive Analysis of Rare Variants of 101 Autism-Linked Genes in a Hungarian Cohort of Autism Spectrum Disorder Patients.

ABSTRACT:

Background

Autism spectrum disorder (ASD) is genetically and phenotypically heterogeneous. Former genetic studies suggested that both common and rare genetic variants play a role in the etiology. In this study, we aimed to analyze rare variants detected by next generation sequencing (NGS) in an autism cohort from Hungary.

Methods

We investigated the yield of NGS panel sequencing of an unselected ASD cohort (N = 174 ) for the detection of ASD associated syndromes. Besides, we analyzed rare variants in a common disease-rare variant framework and performed rare variant burden analysis and gene enrichment analysis in phenotype based clusters.

Results

We have diagnosed 13 molecularly proven syndromic autism cases. Strongest indicators of syndromic autism were intell

SUBMITTER: Balicza P 

PROVIDER: S-EPMC6517558 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature