ARF1-related disorder: phenotypic and molecular spectrum.

ABSTRACT:

Purpose

ARF1 was previously implicated in periventricular nodular heterotopia (PVNH) in only five individuals and systematic clinical characterisation was not available. The aim of this study is to provide a comprehensive description of the phenotypic and genotypic spectrum of ARF1-related neurodevelopmental disorder.

Methods

We collected detailed phenotypes of an international cohort of individuals (n=17) with ARF1 variants assembled through the GeneMatcher platform. Missense variants were structurally modelled, and the impact of several were functionally validated.

Results

De novo variants (10 missense, 1 frameshift, 1 splice altering resulting in 9 residues insertion) in ARF1 were identified among 17 unrelated individuals. Detailed pheno

SUBMITTER: de Sainte Agathe JM 

PROVIDER: S-EPMC10579487 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature