Highly penetrant AUTS2 syndrome phenotype in a boy with AUTS2 C-terminal intragenic deletion

Abstract

Introduction Syndromic autism spectrum disorders represent a group of childhood neurological conditions, that has been distinguished from nonsyndromic or idiopathic autism based on the presence or absence of other additional morphological signs or clinical symptoms [1]. Syndromic autism is typically associated with chromosomal abnormalities or mutations in a single gene. According to