Neonatal diabetes mellitus due to L233F mutation in the KCNJ11 gene

Joshi, Rajesh; Phatarpekar, Ankur

doi:10.1007/s12519-011-0254-z

Cited by 12 publications

(4 citation statements)

References 7 publications

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“…Our results are in agreement with Joshi and Phatarpekar, 2011, who described a case of neonatal diabetes mellitus who was proved to have KCNJ11 gene mutation and was successfully shifted from insulin therapy to oral sulfonylurea treatment on a dose of 0.2mg/kg/day (20).…”

Section: Discussionsupporting

confidence: 92%

Study of KCNJ11 Gene Mutations in Association with Monogenic Diabetes of Infancy and Response to Sulfonylurea Treatment in a Cohort Study in Egypt

et al. 2016

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introduction. KCNJ11 gene activating mutations play a major role in the development of neonatal diabetes mellitus (NDM). KCNJ 11 gene encodes the Kir 6.2 subunit of ATP-sensitive potassium channel which is a critical regulator of pancreatic beta-cell insulin secretion.aim. To study KCNJ11 gene mutations in infants with NDM and the effect of sulfonylurea treatment on the glycemic control in patients with KCNJ11 gene mutation.Subjects and methods. Thirty infants with NDM were screened for KCNJ11 gene mutations by DNA sequencing, insulin therapy was replaced by sulfonylurea treatment in patients with mutations.results. R201C heterozygous mutation was found in one patient who was successfully shifted from insulin therapy to sulfonylurea treatment, while E23k, I337V, and S385C polymorphisms were detected in 14 patients. Conclusion.Screening for KCNJ 11 gene mutations could lead to identification of patients with mutations who can be successfully shifted from insulin therapy to sulfonylurea treatment improving their quality of life.

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Section: Discussionsupporting

confidence: 92%

Study of KCNJ11 Gene Mutations in Association with Monogenic Diabetes of Infancy and Response to Sulfonylurea Treatment in a Cohort Study in Egypt

et al. 2016

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“…Incidence of NDM in Indian population has not been studied so far, but a few case studies have been published from the country [86][87][88][89][90][91] . Our group has studied the genetics of NDM in India.…”

Section: Studies On Neonatal Diabetes In Indiamentioning

confidence: 99%

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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“…Limited mutations were inherited from an autosomal dominant inheritance that had no imprinting impact, with the bulk of around four-fifth of an emerging de novo. There is a definite relationship between genotype and phenotype for Kir 6.2 mutations ( Joshi and Phatarpekar, 2011 ). Almost 80% of the mutations are denovo, with an autosomal dominant inheritance pattern ( Naylor et al., 2011 ).…”

Section: Introductionmentioning

confidence: 99%

Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?

Khan

2021

Heliyon

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Please cite this article as: Khan, I.A., Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?, HELIYON, https://doi.org/10.1016/ j.heliyon.2021.e07903. This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

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Neonatal diabetes mellitus due to L233F mutation in the KCNJ11 gene

Abstract: The patient with NDM due to mutation L233F (not reported till date) in the KCNJ11 gene can be successfully treated with oral glibenclamide therapy.

Cited by 12 publications

References 7 publications

Study of KCNJ11 Gene Mutations in Association with Monogenic Diabetes of Infancy and Response to Sulfonylurea Treatment in a Cohort Study in Egypt

Study of KCNJ11 Gene Mutations in Association with Monogenic Diabetes of Infancy and Response to Sulfonylurea Treatment in a Cohort Study in Egypt

Genetic Basis of Monogenic Diabetes

Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?

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