Identification a novel mononucleotide deletion mutation in GAA in pompe disease patients.

ABSTRACT:

Background

Mutations in the acid alpha-glucosidase (GAA) gene usually lead to reduced GAA activity. In this study, we analyzed the mutations of GAA and GAA enzyme activity from one sibling suspected Pompe disease and their first-degree relatives.

Materials and methods

In this cross-sectional study, GAA enzyme activity assay was assessed using tandem mass spectrometry. Polymerase chain reaction and Sanger sequencing were performed for GAA analysis.

Results

GAA enzyme activity was significantly decreased in patients compared to the normal range (P = 0.02). Two individuals showed ten alterations in the GAA sequence, in which one of them (c. 1650del G) has not been previously described in the literature. A sin

SUBMITTER: Ebrahimi M 

PROVIDER: S-EPMC5583621 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature