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

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 single guanine deletion (del-g) was detected at codon 551 in exon 12. conclusion: according to the literature,the detected change is a novel mutation. we hypothesized that the discovered deletion in the gaa might lead to a reduced activity of the gene product. © 2017 journal of research in medical sciences.