Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy.

ABSTRACT:

Objective

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant adult-onset disease characterized by progressive ptosis, dysphagia, and proximal limb weakness. The genetic cause is an expanded (GCN)n mutation in the PABPN1 gene encoding for the polyadenylate-binding protein nuclear 1. We hypothesized a potential correlation between the size of the (GCN)n expansion and the severity of the phenotype. To do this, we characterized the distribution of the genotypes as well as their correlation with age at diagnosis and phenotypical features in a large cohort of heterozygous and homozygous patients with OPMD in France with a confirmed molecular diagnosis of PABPN1.

Methods

We explored 354 unrelated index cases recruited between 1999 and 2014 in several neuromuscular c

SUBMITTER: Richard P 

PROVIDER: S-EPMC5272966 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature