Identification of Novel Variants in the Hepatocyte Nuclear Factor-1α Gene in South Indian Patients with Maturity Onset Diabetes of Young

Radha, Venkatesan; Ek, Jakob; Anuradha, S; Hansen, Torben; Pedersen, Oluf; Mohan, Viswanathan

doi:10.1210/jc.2008-2371

Cited by 49 publications

(45 citation statements)

References 27 publications

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“…(50) A study of HNF1A in Indian suspected MODY patients found 9% of cases have HNF1A mutations. (51) Similar studies for HNF4A have shown the prevalence to be 3.4% of suspected MODY cases. (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.…”

Section: Mody Epidemiology Studiesmentioning

confidence: 83%

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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Section: Mody Epidemiology Studiesmentioning

confidence: 83%

Undiagnosed MODY: Time for Action

2015

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“…they are non-diabetic (up to 2 generations). The study done in the Eastern Indian population as published Indian studies on MODY is quite sparse [14].…”

Section: Discussionmentioning

confidence: 99%

Novel variants in the hepatocyte nuclear factor-1-alpha gene in MODY and early onset NIDDM: Evidence for a mutational hotspot in exon 5

Ghosal¹,

Sen²,

S³

et al. 2012

OJPM

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“…Among 96 young onset diabetic patients screened for HNF1A gene mutation, we identified nine mutations (9.6%). A novel HNF1A gene mutation Arg263His co-segregated with diabetes in a family of 30 individuals; it was not seen in non-diabetic members in the family, thus providing evidence for the mutation to be involved in MODY 78 . This mutation was further evaluated for pathogenicity using functional genomic assays which demonstrated that the mutant acts as dominant negative suppressor and causes MODY 3 in the affected family, due to reduced HNF1A transactivation potential, DNA binding to HNF1A targets and improper nuclear translocation 79 .…”

Section: Studies On Mody In Indiamentioning

confidence: 95%

Genetic Basis of Monogenic Diabetes

Radha¹,

Mohan²

2017

Current Science

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Advances in the understanding of monogenic causes of diabetes and the discovery of single-gene mutations responsible for different phenotypes have greatly increased our knowledge of -cell physiology. Such advances have had implications for the individual patient diagnosed with the specific monogenic cause of diabetes, especially in maturity onset diabetes of the young (MODY) and neonatal diabetes mellitus (NDM). Genetic diagnosis of MODY is also likely to have important prognostic and therapeutic implications in majority of the patients with confirmed HNF1A and HNF4A mutations. Genetic screening and analyses have helped several neonatal infants carrying mutations in the KCNJ11 and ABCC8 genes to shift from insulin treatment to oral sulphonylurea drugs. The progress in genomics of monogenic diabetic forms has helped in translating the discoveries from bench to bedside in clinical care. Therefore, there is an urgent need to incorporate genetic testing for the genes implicated in monogenic diabetes like MODY and NDM in the diabetes clinics. Discoveries in genetic research methodology and understanding of genetic etiology will have great translational implications for disease treatment and follow-up.

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Identification of Novel Variants in the Hepatocyte Nuclear Factor-1α Gene in South Indian Patients with Maturity Onset Diabetes of Young

Abstract: This study suggests that mutations in the HNF1A gene comprise about 9% of clinically diagnosed MODY subjects in southern India and a novel Arg263His mutation cosegregates with MODY in one family.

Cited by 49 publications

References 27 publications

Undiagnosed MODY: Time for Action

Undiagnosed MODY: Time for Action

Novel variants in the hepatocyte nuclear factor-1-alpha gene in MODY and early onset NIDDM: Evidence for a mutational hotspot in exon 5

Genetic Basis of Monogenic Diabetes

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