Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.

ABSTRACT:

Background

Pompe disease is an autosomal recessive lysosomal glycogen storage disorder that has been reported in different ethnic populations which carry different common mutations of the acid alpha-glucosidase (GAA) gene. The GAA mutation pattern in mainland Chinese patients with late-onset Pompe disease is still not well understood.

Methods

We presented the clinical and genetic characteristics of 27 mainland Chinese late-onset Pompe patients from 24 families.

Results

GAA mutation analysis revealed 26 different mutations, including 10 that were novel. The allelic frequency of c.2238G > C (p.W746C) was found to be 27.08% in this patient group. Respiratory dysfunction was diagnosed in 10 of 11 patients who underwent pulmonary function evaluation, although only four req

SUBMITTER: Liu X 

PROVIDER: S-EPMC4411720 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature