Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.

doi:10.1016/j.gim.2024.101166

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Article

Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.

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

Kohler Jennefer N, Legro Nicole R, Baldridge Dustin, Shin Jimann, Bowman Angela, Ugur Berrak, Jackstadt Madelyn M, Shriver Leah P, Patti Gary J, Zhang Bo, Feng Wenjia, McAdow Anthony R, Goddard Pagé, Ungar Rachel A, Jensen Tanner, Smith Kevin S, Fresard Laure, Alvarez Raquel, Bonner Devon, Reuter Chloe M, McCormack Colleen, Kravets Elijah, Marwaha Shruti, Holt James M, Worthey Elizabeth A, Ashley Euan A, Montgomery Stephen B, Fisher Paul G, Postlethwait John, De Camilli Pietro, Solnica-Krezel Lila, Bernstein Jonathan A, Wheeler Matthew T

Abstract excerpt

PURPOSE: The function of FAM177A1 and its relationship to human disease is largely unknown. Recent studies have demonstrated FAM177A1 to be a critical immune-associated gene. One previous case study has linked FAM177A1 to a neurodevelopmental disorder in 4 siblings. METHODS: We identified 5 individuals from 3 unrelated families with biallelic variants in FAM177A1. The physiological function of FAM177A1 was...

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Identifiers

PMID: 38767059
DOI: 10.1016/j.gim.2024.101166
PMCID: PMC11451386

Genes

FAM177A1

Provenance

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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