Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing.

ABSTRACT:

Background

Alexander disease (AxD) is a rare leukodystrophy with an autosomal dominant inheritance mode. Variants in GFAP lead to this disorder and it is classified into three distinguishable subgroups: infantile, juvenile, and adult-onset types.

Objective

The aim of this study is to report a novel variant causing AxD and collect all the associated variants with juvenile and adult-onset as well.

Methods

We report a 2-year-old female with infantile AxD. All relevant clinical and genetic data were evaluated. Search strategy for all AxD types was performed on PubMed. The extracted data include total recruited patients, number of patients carrying a GFAP variant, nucleotide and protein change, zygosity and all the clinical symptoms.

Results

A novel de novo variant

SUBMITTER: Heshmatzad K 

PROVIDER: S-EPMC9464415 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature