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Article

Novel nonsense mutation in UNC80 in a Turkish patient further validates the sociable skill and severe gastrointestinal problems as part of disease spectrum.

American journal of medical genetics. Part A - 1 Jul 2023

Kelesoglu Fatih M, Kaya Mahsum, Sayili Ebrar Tuba

Abstract excerpt

NALCN channelosome complex contributes to maintaining resting membrane potential. The complex has four domains including two intracellular domains (UNC79 and UNC80), one transmembrane domain (NALCN) and one extracellular domain (FAM155A). Mutations in UNC80 were previously linked to infantile hypotonia with psychomotor retardation and characteristics facies 2. A 6-year-old male with neurodevelopmental disorder...

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PMID: 37067163
DOI: 10.1002/ajmg.a.63213

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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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Novel nonsense mutation in UNC80 in a Turkish patient further validates the sociable skill and severe gastrointestinal problems as part of disease spectrum.PMID 37067163Read ↗

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.Semantic proximity Read ↗

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.Semantic proximity Read ↗

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Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).Semantic proximity Read ↗

Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex.Semantic proximity Read ↗

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