KCNJ11 activating mutation in an indian family with remitting and relapsing diabetes.

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dc.contributor.authorKhadilkar, V V
dc.contributor.authorKhadilkar, A V
dc.contributor.authorKapoor, R R
dc.contributor.authorHussain, K
dc.contributor.authorHattersley, A T
dc.contributor.authorEllard, S
dc.date.accessioned2012-10-29T10:40:21Z
dc.date.available2012-10-29T10:40:21Z
dc.date.issued2010-05
dc.description.abstractObjective. To identify the genetic cause of transient neonatal diabetes mellitus in three siblings from an Indian family. Methods. Case reports with clinical and molecular evaluation of an activating mutation in the KCNJ11 gene are presented. We describe an Indian family with two asymptomatic parents with 3 children presenting with hyperglycemia at 6, 1.5 and 1 month of age respectively. Blood glucose levels at presentation were 22.2, 18.3 and 20 mmol/L and the diabetes remitted in all three children by 5 years of age. None of the affected siblings had dysmorphism or neurological abnormalities. Diabetes relapsed in the oldest sibling at 9.4 years of age and she is now euglycemic on 1mg/Kg of Glibenclamide twice a day. Results. A novel heterozygous missense mutation (G53V) in the KCNJ11 gene was identified in all 3 affected children and the father. Conclusions. The report suggests that screening for KCNJ11 mutations is appropriate in patients diagnosed with neonatal diabetes as it provides valuable information concerning possible course of the disease and choice of treatment.en_US
dc.identifier.citationKhadilkar V V, Khadilkar A V, Kapoor R R, Hussain K, Hattersley A T, Ellard S. KCNJ11 activating mutation in an indian family with remitting and relapsing diabetes. Indian Journal of Pediatrics. 2010 May; 77(5): 551-554.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/142578
dc.language.isoenen_US
dc.source.urihttps://medind.nic.in/icb/t10/i5/icbt10i5p551.pdfen_US
dc.subjectKCNJ11en_US
dc.subjectNeonatal diabetesen_US
dc.subjectRelapseen_US
dc.subjectRemiten_US
dc.subject.meshChild
dc.subject.meshChild, Preschool
dc.subject.meshDiabetes Mellitus, Type 2 --genetics
dc.subject.meshFemale
dc.subject.meshHumans
dc.subject.meshIndia
dc.subject.meshInfant
dc.subject.meshMale
dc.subject.meshMutation, Missense
dc.subject.meshPedigree
dc.subject.meshPotassium Channels, Inwardly Rectifying --genetics
dc.titleKCNJ11 activating mutation in an indian family with remitting and relapsing diabetes.en_US
dc.typeArticleen_US
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