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Article

A new neurodevelopmental disorder linked to heterozygous variants in UNC79.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2023

Bayat Allan, Liu Zhenjiang, Luo Sheng, Fenger Christina D, Højte Anne F, Isidor Bertrand, Cogne Benjamin, Larson Austin, Zanus Caterina, Faletra Flavio, Keren Boris, Musante Luciana, Gourfinkel-An Isabelle, Perrine Charles, Demily Caroline, Lesca Gaeton, Liao Weiping, Ren Dejian

Abstract excerpt

PURPOSE: The "NALCN channelosome" is an ion channel complex that consists of multiple proteins, including NALCN, UNC79, UNC80, and FAM155A. Only a small number of individuals with a neurodevelopmental syndrome have been reported with disease causing variants in NALCN and UNC80. However, no pathogenic UNC79 variants have been reported, and in vivo function of UNC79 in humans is largely unknown. METHODS: We used...

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Identifiers

PMID: 37183800
DOI: 10.1016/j.gim.2023.100894

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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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