Identification a Novel Mononucleotide Deletion Mutation in Gaa in Pompe Disease Patients

Identification a Novel Mononucleotide Deletion Mutation in Gaa in Pompe Disease Patients Publisher

Ebrahimi M¹ ; Behnam M² ; Behranvandjazi N¹ ; Yari L³ ; Sheikhkanlomilan S⁴ ; Salehi M^{2, 5} ; Tahmasebi P¹ ; Amini M¹ ; Behjati M⁶ ; Hosseini N⁷

Show Affiliations

1. Department of Laboratory Sciences, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
2. Medical Genetics Laboratory of Genome, Iran
3. National Institute of Genetic Engineering and Biotechnology, Tehran, Iran
4. Department of Radiology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
5. 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

Source: Journal of Research in Medical Sciences Published:2017

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 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.

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Style	Citing Format
MLA	Ebrahimi M, et al.. "Identification a Novel Mononucleotide Deletion Mutation in Gaa in Pompe Disease Patients." Journal of Research in Medical Sciences, vol. 22, no. 8, 2017, pp. -.
APA	Ebrahimi M, Behnam M, Behranvandjazi N, Yari L, Sheikhkanlomilan S, Salehi M, Tahmasebi P, Amini M, Behjati M, Hosseini N (2017). Identification a Novel Mononucleotide Deletion Mutation in Gaa in Pompe Disease Patients. Journal of Research in Medical Sciences, 22(8), -.
Chicago	Ebrahimi M, Behnam M, Behranvandjazi N, Yari L, Sheikhkanlomilan S, Salehi M, Tahmasebi P, Amini M, Behjati M, Hosseini N. "Identification a Novel Mononucleotide Deletion Mutation in Gaa in Pompe Disease Patients." Journal of Research in Medical Sciences 22, no. 8 (2017): -.
Harvard	Ebrahimi M et al. (2017) 'Identification a Novel Mononucleotide Deletion Mutation in Gaa in Pompe Disease Patients', Journal of Research in Medical Sciences, 22(8), pp. -.
Vancouver	Ebrahimi M, Behnam M, Behranvandjazi N, Yari L, Sheikhkanlomilan S, Salehi M, et al.. Identification a Novel Mononucleotide Deletion Mutation in Gaa in Pompe Disease Patients. Journal of Research in Medical Sciences. 2017;22(8):-.
BibTex	@article{ author = {Ebrahimi M and Behnam M and Behranvandjazi N and Yari L and Sheikhkanlomilan S and Salehi M and Tahmasebi P and Amini M and Behjati M and Hosseini N}, title = {Identification a Novel Mononucleotide Deletion Mutation in Gaa in Pompe Disease Patients}, journal = {Journal of Research in Medical Sciences}, volume = {22}, number = {8}, pages = {-}, year = {2017} }
RIS	TY - JOUR AU - Ebrahimi M AU - Behnam M AU - Behranvandjazi N AU - Yari L AU - Sheikhkanlomilan S AU - Salehi M AU - Tahmasebi P AU - Amini M AU - Behjati M AU - Hosseini N TI - Identification a Novel Mononucleotide Deletion Mutation in Gaa in Pompe Disease Patients JO - Journal of Research in Medical Sciences VL - 22 IS - 8 SP - EP - PY - 2017 ER -

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