IJMDC. 2021; 5(6): 1339-1344

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

Authors: 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.

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


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


Authors
Marwan ElBagoury
Medical Affairs Department, Sanofi-Genzyme, Gulf region
PubMed articlesGoogle scholar articles

Aly Ezzat
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:
. Marwan ElBagoury, Medical Affairs Department, Sanofi-Genzyme, Gulf region; marwan.essam@sanofi.com

Publication history
Received 25 Mar 2021
Accepted 09 May 2021
Published online 09 May 2021
Published in print 29 Jun 2021

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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: September 19, 2021]. 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 September 19, 2021]; 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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