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Article

A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia.

Journal of human genetics - 1 Dec 2024

Holling Tess, Abdelrazek Ibrahim M, Elhady Ghada M, Abd Elmaksoud Marwa, Ryu Seung Woo, Abdalla Ebtesam, Kutsche Kerstin

Abstract excerpt

VLDLR cerebellar hypoplasia is characterized by intellectual disability, non-progressive cerebellar ataxia, and seizures. The characteristic MRI findings include hypoplasia of the inferior portion of the cerebellar vermis and hemispheres, simplified cortical gyration, and a small brain stem. Biallelic VLDLR pathogenic variants cause loss-of-function of the encoded very low-density lipoprotein receptor. VLDLR...

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Identifiers

PMID: 39085459
DOI: 10.1038/s10038-024-01279-w
PMCID: PMC11599036

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