A novel R198H mutation in the glucose-6-phosphate dehydrogenase gene in the tribal groups of the Nilgiris in Southern India

Chalvam, Rati; Kedar, Prabhakar; Colah, Roshan; Ghosh, Kanjaksha; Mukherjee, Malay B.

doi:10.1007/s10038-007-0225-3

Cited by 15 publications

(7 citation statements)

References 13 publications

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“…Besides the mutants described by Minucchi’s review [34], we include the following new variants: Class II G6PD Bahia (Phe66Thr, exon 4) [43], San Luis Potosi (Asn126Tyr; exon 5) [37], Coimbra (Arg198His, exon 6) [45], a class III variant with double mutation; G6PD Sierra Leone (Arg104His, Asn126Asp, exon 5) [46], a class IV G6PD San Paulo mutant (Ile220Met, exon 7) [47]. Finally, we found four mutants that did not classified according to their residual enzyme activity: G6PD Shanghai (Ala231Pro, exon 7) [48], G6PD Karachi (Asp325Asn, exon 9) [49], G6PD Vietnam 1 (Glu3Lys, exon 2) [50], and G6PD Vietnam 2 (Phe66Cys, exon 4) [50] which are shown in the Figure 4.…”

Section: Molecular Characterization Of G6pd Variantsmentioning

confidence: 99%

“…Blood sample from the subject with this variant showed a decreased fluorescence in the screening test for G6PD deficiency and 47% of residual red cell enzyme activity versus those observed in their correspondent control blood samples from non-deficient subjects [37]. Whereas, Chalvam et al [45] reported that G6PD Coimbra mutation detected among the tribal groups of the Nilgiris in Southern India, suffers a substitution of guanine for adenine (593G > A) on exon 6 switching Arg 198 by His. G6PD Coimbra is very close to the G6PD Mediterranean in exon 6 and has similar kinetic properties [45].…”

Section: Molecular Characterization Of G6pd Variantsmentioning

confidence: 99%

“…Whereas, Chalvam et al [45] reported that G6PD Coimbra mutation detected among the tribal groups of the Nilgiris in Southern India, suffers a substitution of guanine for adenine (593G > A) on exon 6 switching Arg 198 by His. G6PD Coimbra is very close to the G6PD Mediterranean in exon 6 and has similar kinetic properties [45]. Other mutation, the Class II G6PD Bahia mutant was reported by Pereira et al [51], this mutant has a substitution of thymine for adenine (T > A) at nucleotide 197 (exon 4) (Phe66Thr) and was found in five neonates of Salvador in the Northeastern Brazilian estate Bahia (Figure 4).…”

Section: Molecular Characterization Of G6pd Variantsmentioning

confidence: 99%

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Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World

Gómez-Manzo

Marcial-Quino

Vanoye-Carlo

et al. 2016

IJMS

179

147

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Glucose-6-phosphate dehydrogenase (G6PD) is a key regulatory enzyme in the pentose phosphate pathway which produces nicotinamide adenine dinucleotide phosphate (NADPH) to maintain an adequate reducing environment in the cells and is especially important in red blood cells (RBC). Given its central role in the regulation of redox state, it is understandable that mutations in the gene encoding G6PD can cause deficiency of the protein activity leading to clinical manifestations such as neonatal jaundice and acute hemolytic anemia. Recently, an extensive review has been published about variants in the g6pd gene; recognizing 186 mutations. In this work, we review the state of the art in G6PD deficiency, describing 217 mutations in the g6pd gene; we also compile information about 31 new mutations, 16 that were not recognized and 15 more that have recently been reported. In order to get a better picture of the effects of new described mutations in g6pd gene, we locate the point mutations in the solved three-dimensional structure of the human G6PD protein. We found that class I mutations have the most deleterious effects on the structure and stability of the protein.

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Section: Molecular Characterization Of G6pd Variantsmentioning

confidence: 99%

Section: Molecular Characterization Of G6pd Variantsmentioning

confidence: 99%

Section: Molecular Characterization Of G6pd Variantsmentioning

confidence: 99%

See 1 more Smart Citation

Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World

Gómez-Manzo

Marcial-Quino

Vanoye-Carlo

et al. 2016

IJMS

179

147

View full text Add to dashboard Cite

show abstract

“…8 Of the three common mutations, Odisha G6PD and Mediterranean G6PD were found to be the main mutational event causing G6PD deficiency among the tribal groups of Maharashtra, Odisha and Gujarat while Namoru (208 T→C) G6PD was exclusively found among the Dravidian speaking tribes of Nilgiri district, Tamil Nadu, which further supported the human migration from Africa to Australia along the coast of southern India. 9,[11][12][13][14] A total of 9,136 neonates were included in this study.…”

Section: Discussionmentioning

confidence: 99%

Prevalence of glucose 6 phosphate dehydrogenase (G6PD) deficiency in a community by newborn screening

Moinuddin

Gagandeep

Mutalik

2017

Int J Contemp Pediatr

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Background: Glucose 6 phosphate dehydrogenase deficiency is a genetic disorder and incidence 400 million per year globally. It is X-linked inherited disorder affect males and rarely females also by lyonisation. Characterized by significant biochemical and molecular heterogeneity. Known for its grave complications like hemolysis, severe anemia, failure and severe jaundice following ingestion of fava beans and certain drugs. Prevalent in certain communities of India, hence routine newborn screening and Detection of g6pd deficiency is important to prevent grave complications.Methods: Prospective observational study carried out at Vani Vilas Children’s hospital attached Bangalore Medical college and research institute, from January 2016 to September 2016. All the newborns born at Vani Vilas Hospial included in the study by routine newborn screening.Results: A total of 9,136 neonates were included in this study. There were 5,013 males and 4,123 females. 37 neonates were found to be G-6-PD deficient, prevalence being 0.40%. The difference in the prevalence of G-6-PD deficiency in males 0.57% (n=29) and females 0.19% (n=8) was significant (p <0.002).Conclusions: Significant prevalence of g6pd in India. In our study, we found 1 G6PD deficiency in per 1000 population. Hence, we recommend screening for G6PD deficiency in all the newborns to prevent complications in future.

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“…Of the three common mutations, G6PD Odisha and G6PD Mediterranean were found to be the main mutational event causing G6PD deficiency among the tribal groups of Maharashtra, Odisha and Gujarat 23 24 25 26 while G6PD Namoru (208 T→C) was exclusively found among the Dravidian speaking tribes of Nilgiri district, Tamil Nadu, which further supported the human migration from Africa to Australia along the coast of southern India 27 . Besides these mutations, G6PD Chatam, G6PD Coimbra, G6PD Nilgiri, and G6PD Gond have also been reported in the Indian tribal populations 25 28 29 .…”

Section: Molecular Pathology Of G6pd Deficiencymentioning

confidence: 95%

Glucose-6-phosphate dehydrogenase (G6PD) deficiency among tribal populations of India - Country scenario

Mukherjee

Colah

Martin

et al. 2015

Indian Journal of Medical Research

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It is believed that the tribal people, who constitute 8.6 per cent of the total population (2011 census of India), are the original inhabitants of India. Glucose-6-phosphate-dehydrogenase (G6PD) deficiency is an X-linked genetic defect, affecting around 400 million people worldwide and is characterized by considerable biochemical and molecular heterogeneity. Deficiency of this enzyme is highly polymorphic in those areas where malaria is/has been endemic. G6PD deficiency was reported from India more than 50 years ago. The prevalence varies from 2.3 to 27.0 per cent with an overall prevalence of 7.7 per cent in different tribal groups. Since the tribal populations live in remote areas where malaria is/has been endemic, irrational use of antimalarial drugs could result in an increased number of cases with drug induced haemolysis. Therefore, before giving antimalarial therapy, routine screening for G6PD deficiency should be undertaken in those tribal communities where its prevalence is high.

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A novel R198H mutation in the glucose-6-phosphate dehydrogenase gene in the tribal groups of the Nilgiris in Southern India

Cited by 15 publications

References 13 publications

Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World

Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World

Prevalence of glucose 6 phosphate dehydrogenase (G6PD) deficiency in a community by newborn screening

Glucose-6-phosphate dehydrogenase (G6PD) deficiency among tribal populations of India - Country scenario

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