RT Journal Article
T1 Genetic Epidemiology of Glucose-6-Dehydrogenase Deficiency in the Arab World.
A1 Priya Doss, C George
A1 Alasmar, Dima R
A1 Bux, Reem I
A1 Sneha, P
A1 Bakhsh, Fadheela Dad
A1 Al-Azwani, Iman
A1 Bekay, Rajaa El
A1 Zayed, Hatem
K1 Mundo árabe
K1 Árabes
K1 Glucosafosfato deshidrogenasa
K1 Deficiencia de glucosafosfato deshidrogenas
K1 Humans
K1 Medio oriente
K1 Simulación de dinámica molecular
K1 Mutación
K1 Mutación missense
K1 PubMed
K1 Eliminación de secuencia
K1 Virulencia
AB A systematic search was implemented using four literature databases (PubMed, Embase, Science Direct and Web of Science) to capture all the causative mutations of Glucose-6-phosphate dehydrogenase (G6PD) deficiency (G6PDD) in the 22 Arab countries. Our search yielded 43 studies that captured 33 mutations (23 missense, one silent, two deletions, and seven intronic mutations), in 3,430 Arab patients with G6PDD. The 23 missense mutations were then subjected to phenotypic classification using in silico prediction tools, which were compared to the WHO pathogenicity scale as a reference. These in silico tools were tested for their predicting efficiency using rigorous statistical analyses. Of the 23 missense mutations, p.S188F, p.I48T, p.N126D, and p.V68M, were identified as the most common mutations among Arab populations, but were not unique to the Arab world, interestingly, our search strategy found four other mutations (p.N135T, p.S179N, p.R246L, and p.Q307P) that are unique to Arabs. These mutations were exposed to structural analysis and molecular dynamics simulation analysis (MDSA), which predicting these mutant forms as potentially affect the enzyme function. The combination of the MDSA, structural analysis, and in silico predictions and statistical tools we used will provide a platform for future prediction accuracy for the pathogenicity of genetic mutations.
PB Nature Publishing Group
YR 2016
FD 2016-11-17
LK http://hdl.handle.net/10668/2560
UL http://hdl.handle.net/10668/2560
LA en
NO Doss CG, Alasmar DR, Bux RI, Sneha P, Bakhsh FD, Al-Azwani I, et al. Genetic Epidemiology of Glucose-6-Dehydrogenase Deficiency in the Arab World. Sci Rep. 2016                         ; 6:37284
NO Journal Article;
DS RISalud
RD Apr 11, 2025