Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5.

doi:10.2337/diabetes.54.11.3126

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Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5.

Diabetes - 1 Nov 2005

Bellanné-Chantelot Christine, Clauin Séverine, Chauveau Dominique, Collin Philippe, Daumont Michèle, Douillard Claire, Dubois-Laforgue Danièle, Dusselier Laurent, Gautier Jean-François, Jadoul Michel, Laloi-Michelin Marie, Jacquesson Laetitia, Larger Etienne, Louis Jacques, Nicolino Marc, Subra Jean-François, Wilhem Jean-Marie, Young Jacques, Velho Gilberto, Timsit José

Abstract excerpt

Maturity-onset diabetes of the young (MODY) 5 is caused by mutations in the TCF2 gene encoding the transcription factor hepatocyte nuclear factor-1beta. However, in 60% of the patients with a phenotype suggesting MODY5, no point mutation is detected in TCF2. We have hypothesized that large genomic rearrangements of TCF2 that are missed by conventional screening methods may account for this observation. In 40...

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PMID: 16249435
DOI: 10.2337/diabetes.54.11.3126

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