Dataset Information
Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability.
Ontology highlight
ABSTRACT: 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.
SUBMITTER: Rafat K
PROVIDER: S-EPMC10697763 | biostudies-literature | 2023 Dec
REPOSITORIES: biostudies-literature
Publications
Dandy-Walker Malformation in a Girl with <i>DDX3X-</i>Related Intellectual Disability.
Molecular syndromology 20230814 6
<h4>Introduction</h4>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>.<h4>Case presentation</h4>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, v ...[more]