Milder forms of muscular dystrophy associated with POMGNT2 mutations.

ABSTRACT:

Objective

To determine the genetic variants in patients with dystroglycanopathy (DGP) and assess the pathogenicity of these variants.

Methods

A total of 20 patients with DGP were identified by immunohistochemistry or Western blot analysis. Whole-exome sequencing (WES) was performed using patient samples. The pathogenicity of the variants identified was evaluated on the basis of the phenotypic recovery in a knockout (KO) haploid human cell line by transfection with mutated POMGNT2 cDNA and on the basis of the in vitro enzymatic activity of mutated proteins.

Results

WES identified homozygous and compound heterozygous missense variants in POMGNT2 in 3 patients with the milder limb-girdle muscular dystrophy (LGMD) and intellectual disability without brain malformation. Th

SUBMITTER: Endo Y 

PROVIDER: S-EPMC4811383 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature