E-ISSN 1658-7820
 

Review Article

Online Publishing Date:
04 / 06 / 2021

 


A review of the frequency of the D409H mutation in the acid β-gluc osidase gene among Gaucher disease patients from the Gulf region

Marwan ElBagoury, Aly Ezzat, Sherif Roushdy, Yahia Aktham.


Abstract
Gaucher disease (GD) is an inherited autosomal recessive lysosomal storage disease resulting from biallelic mutations in the Glucocerebrosidase gene located on chromosome 1q21. The sub-acute neuronopathic form, Gaucher disease type 3c, is commonly identified in the Arab population and associated with cardiac manifestations. It is uniquely linked to homozygosity for the D409H gene mutation in all identified mutated alleles. Despite being a commonly identified Gaucher genotype in the region, few reports of D409H mutation have been reported in the Middle East. Nevertheless, the increased rate of consanguinity among Arabs, ranging from 10% to 70%, contributes to a high rate of genetic diseases, including GD. However, with its associated gene mutation, GD, D409H, remains an area for further exploration in the Gulf area.

Key words: Gaucher disease, D409H, acid β-glucosidase gene, gene mutation, Gulf region


 
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How to Cite this Article
Pubmed Style

ElBagoury M, Ezzat A, Roushdy S, Aktham Y. A review of the frequency of the D409H mutation in the acid β-gluc osidase gene among Gaucher disease patients from the Gulf region. IJMDC. 2021; 5(6): 1339-1344. doi:10.24911/IJMDC.51-1616378340


Web Style

ElBagoury M, Ezzat A, Roushdy S, Aktham Y. A review of the frequency of the D409H mutation in the acid β-gluc osidase gene among Gaucher disease patients from the Gulf region. https://www.ijmdc.com/?mno=66505 [Access: March 26, 2024]. doi:10.24911/IJMDC.51-1616378340


AMA (American Medical Association) Style

ElBagoury M, Ezzat A, Roushdy S, Aktham Y. A review of the frequency of the D409H mutation in the acid β-gluc osidase gene among Gaucher disease patients from the Gulf region. IJMDC. 2021; 5(6): 1339-1344. doi:10.24911/IJMDC.51-1616378340



Vancouver/ICMJE Style

ElBagoury M, Ezzat A, Roushdy S, Aktham Y. A review of the frequency of the D409H mutation in the acid β-gluc osidase gene among Gaucher disease patients from the Gulf region. IJMDC. (2021), [cited March 26, 2024]; 5(6): 1339-1344. doi:10.24911/IJMDC.51-1616378340



Harvard Style

ElBagoury, M., Ezzat, . A., Roushdy, . S. & Aktham, . Y. (2021) A review of the frequency of the D409H mutation in the acid β-gluc osidase gene among Gaucher disease patients from the Gulf region. IJMDC, 5 (6), 1339-1344. doi:10.24911/IJMDC.51-1616378340



Turabian Style

ElBagoury, Marwan, Aly Ezzat, Sherif Roushdy, and Yahia Aktham. 2021. A review of the frequency of the D409H mutation in the acid β-gluc osidase gene among Gaucher disease patients from the Gulf region. International Journal of Medicine in Developing Countries, 5 (6), 1339-1344. doi:10.24911/IJMDC.51-1616378340



Chicago Style

ElBagoury, Marwan, Aly Ezzat, Sherif Roushdy, and Yahia Aktham. "A review of the frequency of the D409H mutation in the acid β-gluc osidase gene among Gaucher disease patients from the Gulf region." International Journal of Medicine in Developing Countries 5 (2021), 1339-1344. doi:10.24911/IJMDC.51-1616378340



MLA (The Modern Language Association) Style

ElBagoury, Marwan, Aly Ezzat, Sherif Roushdy, and Yahia Aktham. "A review of the frequency of the D409H mutation in the acid β-gluc osidase gene among Gaucher disease patients from the Gulf region." International Journal of Medicine in Developing Countries 5.6 (2021), 1339-1344. Print. doi:10.24911/IJMDC.51-1616378340



APA (American Psychological Association) Style

ElBagoury, M., Ezzat, . A., Roushdy, . S. & Aktham, . Y. (2021) A review of the frequency of the D409H mutation in the acid β-gluc osidase gene among Gaucher disease patients from the Gulf region. International Journal of Medicine in Developing Countries, 5 (6), 1339-1344. doi:10.24911/IJMDC.51-1616378340





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