Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability

Abstract

<b><i>Introduction:</i></b> We report on a 4-year-old female patient who presented with severe intellectual disability, autistic features, hyperlaxity of joints, and progressive scoliosis. Whole-exome sequencing identified a de novo missense variant (c.976C>T; p.Arg326Cys) in <i>DDX3X</i>. <b><i>Case Presentation:</i></b> The girl was born with congenital diaphragmatic hernia a finding which had not previously been associated with variants in <i>DDX3X</i>. Her brain MRI showed hypogenesis of corpus callosum, ventriculomegaly, frontal and perisylvian polymicrogyria, and hypoplastic pons in addition to Dandy-Walker malformation. <b><i>Conclusion:</i></b> Our results confirmed the phenotype and genotype correlation of missense variants and the polymicrogyria. Moreover, it further expands the knowledge of the phenotypic and molecular features of <i>DDX3X-</i>related intellectual disability.