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Article

Complex structural variation and nonsense variant in trans cause VPS50-related disorder.

Journal of medical genetics - 29 Aug 2024

Hecher Laura, Gorski-Alberts Esther, Begemann Matthias, Herwig Johanna, Lausberg Eva, Hillebrand Georg, Volk Alexander E, Kurth Ingo, Kraft Florian, Kutsche Kerstin

Abstract excerpt

Homozygous VPS50 variants have been previously described in two unrelated patients with a neurodevelopmental disorder with microcephaly, seizures and neonatal cholestasis. VPS50 encodes a subunit that is unique to the heterotetrameric endosome-associated recycling protein (EARP) complex. The other subunits of the EARP complex, such as VPS51, VPS52 and VPS53, are also shared by the Golgi-associated retrograde...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38876772
DOI: 10.1136/jmg-2024-109983

Genes

VPS50
VPS52
VPS53
VPS51

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Complex structural variation and nonsense variant in trans cause VPS50-related disorder.PMID 38876772Read ↗

Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.Semantic proximity Read ↗

A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexesSemantic proximity Read ↗

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A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.Semantic proximity Read ↗

From Gene to Pathways: Understanding Novel Vps51 Variant and Its Cellular ConsequencesSemantic proximity Read ↗

A Neurodevelopmental Disorder Caused by Mutations in the VPS51 Subunit of the GARP and EARP ComplexesSemantic proximity Read ↗

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.Semantic proximity Read ↗

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

Clinical and molecular heterogeneity of VPS13D-related neurodevelopmental and movement disorders.Semantic proximity Read ↗

Hypomyelination and developmental delay associated with <i>VPS11</i> mutation in Ashkenazi-Jewish patientsSemantic proximity Read ↗

VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).Semantic proximity Read ↗

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