DDX3X syndrome: From clinical phenotypes to biological insights

Author:

von Mueffling Alexa12345,Garcia‐Forn Marta12345,De Rubeis Silvia12345ORCID

Affiliation:

1. Seaver Autism Center for Research and Treatment Icahn School of Medicine at Mount Sinai New York City New York USA

2. Department of Psychiatry Icahn School of Medicine at Mount Sinai New York City New York USA

3. The Mindich Child Health and Development Institute Icahn School of Medicine at Mount Sinai New York City New York USA

4. Friedman Brain Institute Icahn School of Medicine at Mount Sinai New York City New York USA

5. The Alper Center for Neural Development and Regeneration Icahn School of Medicine at Mount Sinai New York City New York USA

Abstract

AbstractDDX3X syndrome is a neurodevelopmental disorder accounting for up to 3% of cases of intellectual disability (ID) and affecting primarily females. Individuals diagnosed with DDX3X syndrome can also present with behavioral challenges, motor delays and movement disorders, epilepsy, and congenital malformations. DDX3X syndrome is caused by mutations in the X‐linked gene DDX3X, which encodes a DEAD‐box RNA helicase with critical roles in RNA metabolism, including mRNA translation. Emerging discoveries from animal models are unveiling a fundamental role of DDX3X in neuronal differentiation and development, especially in the neocortex. Here, we review the current knowledge of genetic and neurobiological mechanisms underlying DDX3X syndrome and their relationship with clinical phenotypes.image

Funder

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Publisher

Wiley

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