A nonsense mutation in MME gene associates with autosomal recessive late-onset Charcot-Marie-Tooth disease.

ABSTRACT:

Background

The genetic cause for the majority of patients with late-onset axonal form of neuropathies have remained unknown. In this study we aimed to identify the causal mutation in a family with multiple affected individuals manifesting a range of phenotypic features consistent with late-onset sensorimotor axonal polyneuropathy.

Methods

Whole exome sequencing (WES) followed by targeted variant screening and prioritization was performed to identify the candidate mutation. The co-segregation of the mutation with the phenotype was confirmed by Sanger sequencing.

Results

We identified a nonsense mutation (c.1564C>T; p.Q522*) in membrane metalloendopeptidase (MME) gene as the cause of the disease condition. The mutation has a combined annotation- dependent depletion (CAD

SUBMITTER: Jamiri Z 

PROVIDER: S-EPMC9034668 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature