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

Karima Rafat; Mohamed S Abdel-Hamid; Ghada M H Abdel-Salam

doi:10.1159/000531715

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

Mol Syndromol. 2023 Dec;14(6):523-529. doi: 10.1159/000531715. Epub 2023 Aug 14.

Authors

Karima Rafat¹, Mohamed S Abdel-Hamid², Ghada M H Abdel-Salam¹

Affiliations

¹ Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
² Medical Molecular Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

PMID: 38058759
PMCID: PMC10697763 (available on 2024-06-01)
DOI: 10.1159/000531715

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.

Keywords: Autism spectrum disorder; DDX3X; Dandy-Walker malformation; Intellectual disability.

Grants and funding

This study was funded by a local research project sponsored by the National Research Centre (Grant number: P12060186).