Relevance to Autism

Rare deletions involving the DDX53 gene have been identified in individuals with ASD (Pinto et al., 2010; Prasad et al., 2012; Nava et al., 2014). More recently, Scala et al., 2024 identified 10 individuals with ASD from 8 unrelated families, including three individuals from two families from the SPARK cohort, carrying rare, predicted damaging or loss-of-function variants in DDX53; they subsequently reported an additional 23 individuals with ASD from the SPARK and MSSNG cohorts carrying mostly maternally-inherited, rare, damaging DDX53 variants.

Molecular Function

This intronless gene encodes a protein which contains several domains found in members of the DEAD-box helicase protein family. Other members of this protein family participate in ATP-dependent RNA unwinding.

External Links

References