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

ABSTRACT:

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 studied in a zebrafish model organism and human cell lines with loss-of-function variants similar to the affected cohort.

Results

These individuals share a characteristic phenotype defined by macrocephaly, global developmental delay, intellectual disability, seizures, behavioral abnormalities, hypotonia, and gait disturbance. We show that FAM177A1 localizes to the Gol

SUBMITTER: Kohler JN 

PROVIDER: S-EPMC11451386 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature