Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability.
Mol Syndromol
; 14(6): 523-529, 2023 Dec.
Article
en En
| MEDLINE
| ID: mdl-38058759
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.
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1
Colección:
01-internacional
Banco de datos:
MEDLINE
Idioma:
En
Revista:
Mol Syndromol
Año:
2023
Tipo del documento:
Article
País de afiliación:
Egipto