2007
DOI: 10.1210/jc.2007-0486
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Molecular Basis of Neonatal Diabetes in Japanese Patients

Abstract: Both the 6q24 abnormality and KCNJ11 mutation are major causes of NDM in Japanese patients. Clinical differences between them could provide important insight into the decision of which gene to analyze in affected patients first.

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Cited by 68 publications
(71 citation statements)
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“…TNDM is mainly caused by the overexpression of an imprinted region of chromosome 6q24 with paternal expression (i.e., paternal uniparental disomy of chromosome 6 [pUPD6], paternal 6q24 duplication, or methylation defect of maternal 6q24). In most cases, diabetes occurs within 1 week of birth, with remission in an average of 3 months [2,3]. PNDM is mainly caused by an abnormality of the KCNJ11 gene that encodes the Kir6.2 subunit of the ATP-sensitive potassium channel of pancreatic beta cells, with onset at a mean age of 7 weeks [3,4].…”
Section: Introductionmentioning
confidence: 99%
“…TNDM is mainly caused by the overexpression of an imprinted region of chromosome 6q24 with paternal expression (i.e., paternal uniparental disomy of chromosome 6 [pUPD6], paternal 6q24 duplication, or methylation defect of maternal 6q24). In most cases, diabetes occurs within 1 week of birth, with remission in an average of 3 months [2,3]. PNDM is mainly caused by an abnormality of the KCNJ11 gene that encodes the Kir6.2 subunit of the ATP-sensitive potassium channel of pancreatic beta cells, with onset at a mean age of 7 weeks [3,4].…”
Section: Introductionmentioning
confidence: 99%
“…Recently, the genes involved in the development of various pancreatic b-cells and their functions have been identified as the causes of NDM. 8,9 As GHb levels cannot be used as an indicator of glycemic control status in patients with NDM, most of these patients receive insulin therapy to monitor plasma glucose levels alone.…”
Section: Introductionmentioning
confidence: 99%
“…The most common is type 2 DM characterized by its complex disease pattern, in which the additive effect of the genes plus the environmental factors determine the liability or threshold for its development. [1][2][3][4][5] The clinical complexity of this entity is based on the multiple pathophysiological effects involved in its pathogenesis, as well as dissection of its possible overlapping genetic component in families with DM presenting different forms of inheritance in conjunction with type 2 DM. Unfortunately it is not known, even the frequency of these overlapping positions, nor have all the phenotypes of these positions been reported.…”
Section: Introductionmentioning
confidence: 99%
“…Unfortunately it is not known, even the frequency of these overlapping positions, nor have all the phenotypes of these positions been reported. [1][2][3][4][5] Five pure forms of DM have now been reported; DM type 1, DM type 2, DM with deafness, DM onset in young adult (MODY), DM onset in older adult and neonatal DM. The first two have a multifactorial inheritance pattern, the third mitochondrial, and the last autosomal dominant.…”
Section: Introductionmentioning
confidence: 99%
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