Glucokinase Gene Mutations (MODY 2) in Asian Indians

Kanthimathi, Sekar; Joghee, Suresh; Balamurugan, Krishnaswamy; Ranjani, Harish; Sonya, J; Goswami, Soumik; S, Chowdhury; Mohan, .; Radha, .

doi:10.1089/dia.2013.0244

Cited by 26 publications

(17 citation statements)

References 24 publications

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“…Until recently, genetic studies among individuals of Asian Indian origin related to MODY have been limited to the screening of HNF1A, HNF4A and GCK genes. 20,25,26 In the current study we have performed a comprehensive MODY genetic screening using next-generation sequencing. To the best of our knowledge, this Fig.…”

Section: Discussionmentioning

confidence: 99%

Maturity onset diabetes of the young in India – a distinctive mutation pattern identified through targeted next‐generation sequencing

Chapla

Mruthyunjaya

Asha

et al. 2014

Clinical Endocrinology

110

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Section: Discussionmentioning

confidence: 99%

Maturity onset diabetes of the young in India – a distinctive mutation pattern identified through targeted next‐generation sequencing

Chapla

Mruthyunjaya

Asha

et al. 2014

Clinical Endocrinology

110

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“…(52) However, when 49 children and adolescents from a study in Chennai, India with hyperglycemia were sequenced for GCK mutations, none were discovered, despite other case reports of GCK -MODY in Indian patients. (53) A recent study of MODY in India utilized next-generation sequencing to attain sequence data for 10 MODY genes, rather than only the 3 most common. (54) This study found potentially damaging variants in HNF4A , GCK , HNF1A , PDX1 , HNF1B , NEUROD1 , and PAX4 in 11 of 56 patients tested.…”

Section: Mody Epidemiology Studiesmentioning

confidence: 99%

Undiagnosed MODY: Time for Action

2015

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Maturity-Onset Diabetes of the Young (MODY) is a monogenic form of diabetes that accounts for at least 1% of all cases of diabetes mellitus. MODY classically presents as non-insulin requiring diabetes in lean individuals younger than 25 with evidence of autosomal dominant inheritance, but these criteria do not capture all cases and can also overlap with other diabetes types. Genetic diagnosis of MODY is important for selecting the right treatment, yet ~95% of MODY cases in the U.S. are misdiagnosed. MODY prevalence and characteristics have been well-studied in some populations, such as the UK and Norway, while other ethnicities, like African and Latino, need much more study. Emerging next-generation sequencing methods are making more widespread study and clinical diagnosis increasingly feasible. This review will cover the current epidemiological studies of MODY and barriers and opportunities for moving toward a goal of access to an appropriate diagnosis for all affected individuals.

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“…Previous reports from our centre on other MODY subtypes, showed that among the clinically classified MODY patients 9.6% (9/96) had MODY3 (Radha et al., ), 3.4% (3/87) had MODY1 (Anuradha et al., ) and two of six patients with mild hyperglycemia had MODY2 mutations (Kanthimathi et al., ). In this study, we report that the prevalence of HNF1B gene mutations among a series of young diabetes subjects with renal abnormalities seen at our centre is about 10% (5/50).…”

Section: Discussionmentioning

confidence: 99%

Identification and Molecular Characterization ofHNF1BGene Mutations in Indian Diabetic Patients with Renal Abnormalities

Kanthimathi

Balamurugan

Mohan

et al. 2014

Annals of Human Genetics

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SummaryHeterozygous mutations of the HNF1B gene (HNF1B-MODY or MODY5) are associated with a wide clinical spectrum of renal and extrarenal disease without clear genotype-phenotype correlation. In this study, we investigated the prevalence of HNF1B gene mutations in young Indian diabetic patients with various renal abnormalities. Fifty unrelated young diabetic patients, who also had renal abnormalities, were selected from the electronic records of a large diabetes centre in Chennai, in southern India. All patients were sequenced for HNF1B gene mutations. The whole or partial gene deletion was analyzed by MLPA. Functional characterization of the novel variant (Asn321Asp) was also performed using transcriptional activation and subcellular localization assays. We identified six different HNF1B gene mutations which included four previously reported (-67C>T, Arg165His, IVS2nt+2insT, Met1_Trp557del) and two novel variations (Asn321Asp, IVS3nt-4C>G). The functional study revealed that the novel variation Asn321Asp in both the heterozygous and homozygous state showed similar transcriptional activity, expression levels and normal transportation of protein to the nucleus similar to wild type, suggesting that it is not likely to be pathogenic. This is the first major study of HNF1B-MODY from India and shows that about 10% of young diabetic subjects with renal abnormalities seen at a tertiary diabetes centre harbor HNF1B gene mutations.

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Glucokinase Gene Mutations (MODY 2) in Asian Indians

Abstract: This is the first study of MODY 2 mutations from India and confirms the importance of considering GCK gene mutation screening in patients with mild early-onset hyperglycemia who are negative for β-cell antibodies.

Cited by 26 publications

References 24 publications

Maturity onset diabetes of the young in India – a distinctive mutation pattern identified through targeted next‐generation sequencing

Maturity onset diabetes of the young in India – a distinctive mutation pattern identified through targeted next‐generation sequencing

Undiagnosed MODY: Time for Action

Identification and Molecular Characterization ofHNF1BGene Mutations in Indian Diabetic Patients with Renal Abnormalities

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