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Article

VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features.

Clinical genetics - 1 Apr 2020

Beetz Christian, Ameziane Najim, Kdissa Ameni, Karageorgou Vasiliki, Bauer Peter, Suleiman Jehan, Sutton V Reid, El-Hattab Ayman W

Abstract excerpt

In this report, we describe two cousins with cognitive impairment, growth failure, skeletal abnormalities, and distinctive facial features. Genome sequencing failed to identify variants in known disease-associated genes explaining the phenotype. Extended comprehensive analysis of the two affected cousins' genomes, however, revealed that both share the homozygous nonsense variant c.178G>T (p.Glu60*) in the VPS26C...

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PMID: 31845315
DOI: 10.1111/cge.13690

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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