Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.

doi:10.1016/j.gim.2024.101125

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Article

Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2024

Ma Mengqi, Ganapathi Mythily, Zheng Yiming, Tan Kai-Li, Kanca Oguz, Bove Kevin E, Quintanilla Norma, Sag Sebnem O, Temel Sehime G, LeDuc Charles A, McPartland Amanda J, Pereira Elaine M, Shen Yufeng, Hagen Jacob, Thomas Christie P, Nguyen Galván Nhu Thao, Pan Xueyang, Lu Shenzhao, Rosenfeld Jill A, Calame Daniel G, Wangler Michael F, Lupski James R, Pehlivan Davut, Hertel Paula M, Chung Wendy K, Bellen Hugo J

Abstract excerpt

PURPOSE: YKT6 plays important roles in multiple intracellular vesicle trafficking events but has not been associated with Mendelian diseases. METHODS: We report 3 unrelated individuals with rare homozygous missense variants in YKT6 who exhibited neurological disease with or without a progressive infantile liver disease. We modeled the variants in Drosophila. We generated wild-type and variant genomic rescue...

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Identifiers

PMID: 38522068
DOI: 10.1016/j.gim.2024.101125
PMCID: PMC11335040

Genes

YKT6

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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