Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants.

ABSTRACT:

Objective

Mutations in ANXA11 cause amyotrophic lateral sclerosis (ALS) and have recently been identified as a cause of multisystem proteinopathy and adult-onset muscular dystrophy. These conditions are adult-onset diseases and result from the substitution of Aspartate 40 (Asp40) for an apolar residue in the intrinsically disordered domain (IDD) of ANXA11. Some ALS-related variants are known to affect ANXA11 IDD; however, the mechanism by which the myopathy occurs is unknown.

Methods

Genetic analysis was performed using WES-trio. For the study of variant pathogenicity, we used recombinant proteins, muscle biopsy, and fibroblasts.

Results

Here we describe an individual with severe and rapidly progressive childhood-onset oculopharyngeal muscular dystrophy who carries a

SUBMITTER: Natera-de Benito D 

PROVIDER: S-EPMC10014011 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature