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June 20, 2026American Journal of Medical Genetics Part A

Report of a Homozygous Nonsense Variant in the WDR91 Gene Associated With Severe Communicating Hydrocephalus, Dandy Walker Malformation, and Cerebellar Hypoplasia

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Authors

RSRhea ShriyanTKTushar KachhadiyaRSRishi Sharma

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Overview

Randomized trial reports a homozygous variant linked to hydrocephalus in a child, suggesting new genetic connections.

Key Points

  • To identify a homozygous nonsense variant in the WDR91 gene and its association with congenital hydrocephalus and related brain malformations.
  • Exome sequencing (trio) used to identify the novel variant c.1245_1246delAG in the WDR91 gene.
  • Sanger sequencing confirmed the variant in the proband and heterozygous status in the asymptomatic parents.
  • Literature review conducted to assess the implications of WDR91 variants in brain development.
  • A novel homozygous nonsense variant c.1245_1246delAG identified in the WDR91 gene.
  • The proband exhibited severe congenital communicating hydrocephalus and cerebellar hypoplasia with heterozygous parents.
  • Evidence supports strong correlation between loss-of-function variants in WDR91 and congenital hydrocephalus.

Cite This Study

Shriyan et al. (2026) studied this question.

synapsesocial.com/papers/6a362f3bdb0793dc1a536bc2https://doi.org/10.1002/ajmg.a.70228
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