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Chudley-McCullough Syndrome: A Novel Variant found in Two Siblings from a Libyan Family
  • Caitlyn Lee,
  • Maha Saleh
Caitlyn Lee
Western University Schulich School of Medicine & Dentistry

Corresponding Author:[email protected]

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Maha Saleh
Western University Schulich School of Medicine & Dentistry
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Abstract

We describe two siblings with Chudley-McCullough Syndrome born to healthy consanguineous parents of Libyan descent. They presented with hydrocephalus identified during the neonatal period and bilateral profound hearing loss by one year of age. Genetic testing identified a homozygous , novel GPSM2 gene nonsense variant, c.1420C>T ( p.474Arg*). We review findings
06 Jul 2024Submitted to Clinical Case Reports
26 Aug 2024Submission Checks Completed
26 Aug 2024Assigned to Editor
06 Sep 2024Reviewer(s) Assigned
15 Oct 2024Review(s) Completed, Editorial Evaluation Pending