Review Article
IJMDC. 2022; 6(6): 855-863
Common c.-32-13T>G mutations of the acid α-glucosidase gene in Pompe disease: an updated literature review
Authors: Aly Ezzat, Marwan ElBagoury, Sherif Roushdy, Yahia Aktham.
ABSTRACT
Pompe disease is a multisystemic metabolic rare disease caused by the deficiency of the lysosomal enzyme acid-α-glucosidase (GAA) leading to progressive muscle weakness, organomegaly, respiratory failure, and ultimately death. The inotropic c.-32-13T > G mutation is a commonly reported mutation among cases with late-onset Pompe disease and presents in 40%-90% of the cases, with predominance among Caucasian Populations. In addition, c.1856G > A missense mutation effectively reduces GAA activity and is associated with an intermediate disease course. To date, the mechanisms by which the c.-32-13T > G mutation affects GAA mRNA splicing and c.1856G > A affects GAA activity are not fully known. Therefore, this manuscript reviews the current literature describing the frequency of c.-32-13T > G and c.1856G > A variation in Pompe disease patients and the mechanisms underlying these variations.
Keywords:
Pompe disease, lysosomal storage diseases, LSD, metabolic disease, alpha-glucosidase, gene mutation.
Authors
Aly Ezzat
Medical Affairs Department, Sanofi-Genzyme, Gulf region
PubMed articlesGoogle scholar articles
Marwan ElBagoury
Medical Affairs Department, Sanofi-Genzyme, Gulf region
PubMed articlesGoogle scholar articles
Sherif Roushdy
Medical Affairs Department, Sanofi-Genzyme, Gulf region
PubMed articlesGoogle scholar articles
Yahia Aktham
Medical Affairs Department, Sanofi-Genzyme, Gulf region.
PubMed articlesGoogle scholar articles
Correspondence to:
. Medical Affairs Department, Sanofi-Genzyme, Gulf region.; Yahia.aktham@gmail.com
Publication history
Received 08 Oct 2021
Revised 07 Feb 2022
Accepted 30 Mar 2022
Published online 30 Apr 2022
Published in print 04 Jun 2022
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Ezzat A, ElBagoury M, Roushdy S, Aktham Y. Common c.-32-13T>G mutations of the acid α-glucosidase gene in Pompe disease: an updated literature review. IJMDC. 2022; 6(6): 855-863. doi:10.24911/IJMDC.51-1633655252
Web Style
Ezzat A, ElBagoury M, Roushdy S, Aktham Y. Common c.-32-13T>G mutations of the acid α-glucosidase gene in Pompe disease: an updated literature review. https://www.ijmdc.com/?mno=131175 [Access: August 18, 2022]. doi:10.24911/IJMDC.51-1633655252
AMA (American Medical Association) Style
Ezzat A, ElBagoury M, Roushdy S, Aktham Y. Common c.-32-13T>G mutations of the acid α-glucosidase gene in Pompe disease: an updated literature review. IJMDC. 2022; 6(6): 855-863. doi:10.24911/IJMDC.51-1633655252
Vancouver/ICMJE Style
Ezzat A, ElBagoury M, Roushdy S, Aktham Y. Common c.-32-13T>G mutations of the acid α-glucosidase gene in Pompe disease: an updated literature review. IJMDC. (2022), [cited August 18, 2022]; 6(6): 855-863. doi:10.24911/IJMDC.51-1633655252
Harvard Style
Ezzat, A., ElBagoury, . M., Roushdy, . S. & Aktham, . Y. (2022) Common c.-32-13T>G mutations of the acid α-glucosidase gene in Pompe disease: an updated literature review. IJMDC, 6 (6), 855-863. doi:10.24911/IJMDC.51-1633655252
Turabian Style
Ezzat, Aly, Marwan ElBagoury, Sherif Roushdy, and Yahia Aktham. 2022. Common c.-32-13T>G mutations of the acid α-glucosidase gene in Pompe disease: an updated literature review. International Journal of Medicine in Developing Countries, 6 (6), 855-863. doi:10.24911/IJMDC.51-1633655252
Chicago Style
Ezzat, Aly, Marwan ElBagoury, Sherif Roushdy, and Yahia Aktham. "Common c.-32-13T>G mutations of the acid α-glucosidase gene in Pompe disease: an updated literature review." International Journal of Medicine in Developing Countries 6 (2022), 855-863. doi:10.24911/IJMDC.51-1633655252
MLA (The Modern Language Association) Style
Ezzat, Aly, Marwan ElBagoury, Sherif Roushdy, and Yahia Aktham. "Common c.-32-13T>G mutations of the acid α-glucosidase gene in Pompe disease: an updated literature review." International Journal of Medicine in Developing Countries 6.6 (2022), 855-863. Print. doi:10.24911/IJMDC.51-1633655252
APA (American Psychological Association) Style
Ezzat, A., ElBagoury, . M., Roushdy, . S. & Aktham, . Y. (2022) Common c.-32-13T>G mutations of the acid α-glucosidase gene in Pompe disease: an updated literature review. International Journal of Medicine in Developing Countries, 6 (6), 855-863. doi:10.24911/IJMDC.51-1633655252
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