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

Introduction: 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 DDX3X. Case Presentation: The girl...

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Published inMolecular syndromology Vol. 14; no. 6; pp. 523 - 529
Main Authors Rafat, Karima, Abdel-Hamid, Mohamed S., Abdel-Salam, Ghada M.H.
Format Journal Article
LanguageEnglish
Published Basel, Switzerland 01.12.2023
Subjects
Novel Insights from Clinical Practice
Dandy-Walker malformation
DDX3X
Intellectual disability
Autism spectrum disorder
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Summary:Introduction: 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 DDX3X. Case Presentation: The girl was born with congenital diaphragmatic hernia a finding which had not previously been associated with variants in DDX3X. Her brain MRI showed hypogenesis of corpus callosum, ventriculomegaly, frontal and perisylvian polymicrogyria, and hypoplastic pons in addition to Dandy-Walker malformation. Conclusion: 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 DDX3X-related intellectual disability.
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ISSN:1661-8769
1661-8777
DOI:10.1159/000531715