Autism
Gene: DDX53
The DDX53 gene is a single-exon RNA helicase which lies intronic to PTCHD1-AS (a multi-isoform long noncoding RNA (lncRNA) at the Xp22.11 locus. It is thought to play a role in RNA decay, RNA processing, ribosome biogenesis, and translation initiation.
9 affected males and 3 affected females from 9 unrelated families with ASD and rare, predicted damaging or loss-of-function variants in DDX53 (including a gene deletion involving DDX53 and exons of the noncoding RNA PTCHD1-AS). A further 26 individuals with ASD were identified (from Autism Speaks MSSNG and Simons Foundation Autism Research Initiative) with 19 rare, damaging DDX53 variations (mostly maternally inherited). No functional evidence.
Sources: LiteratureCreated: 14 Jan 2025, 10:06 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
autism spectrum disorder MONDO:0005258
Publications
Gene: ddx53 has been classified as Green List (High Evidence).
gene: DDX53 was added gene: DDX53 was added to Autism. Sources: Literature Mode of inheritance for gene: DDX53 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: DDX53 were set to PMID: 39706195 Phenotypes for gene: DDX53 were set to autism spectrum disorder MONDO:0005258 Review for gene: DDX53 was set to GREEN