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SHORT COMMUNICATION
Year : 2017  |  Volume : 22  |  Issue : 1  |  Page : 100

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


1 Department of Laboratory Sciences, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
2 Medical Genetics Laboratory of Genome, Tehran, Iran
3 PHD Candidate of Genetics at National Institute of Genetic Engineering and Biotechnology, Tehran, Iran
4 Department of Radiology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
5 Medical Genetics Laboratory of Genome, Tehran; Department of Genetics and Molecular Biology, Isfahan University of Medical Sciences, Isfahan, Iran
6 Cardiovascular Research Center, Isfahan Cardiovascular Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran
7 Department of Biotechnology, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Correspondence Address:
Mansoor Salehi
Department of Genetic and Molecular Biology, Isfahan University of Medical Sciences, Isfahan
Iran
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jrms.JRMS_874_16

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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.


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