A Case of Novel Mutation of HNF1B in Maturity-onset Diabetes of the Young Type 5 (MODY5)
نویسندگان
چکیده
Maturity-onset diabetes of the young (MODY) is both a genetically and clinically heterozygous type of diabetes mellitus characterized by early onset (often before 25 yr of age) and absence of pancreatic β-cell autoimmunity markers (1). To date, mutations in several distinct genes have been implicated in MODY (1, 2). Among the different types of MODY, MODY5 is caused by mutations in the gene encoding the transcription factor hepatocyte nuclear factor (HNF) 1β. It is known that several abnormalities in kidney, pancreas, and genital tract formation are found in MODY5 patients (1–4). Here we report clinical characteristics and a novel mutation in HNF1B in a Japanese patient with MODY5.
منابع مشابه
Pectus excavatum is part of the clinical spectrum of HNF1B MODY5.
HNF1B maturity-onset diabetes of the young (MODY) (previously named MODY5) is a syndrome due to heterozygous molecular anomalies of the hepatocyte nuclear factor (HNF)1B that may associate diabetes, morphological and functional abnormalities of the kidneys and of the pancreas, liver test anomalies, and genital tract malformations (1,2). MODY5 is due to HNF1B point mutations in half the cases, a...
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Mutation in HNF1B, the hepatocyte nuclear factor-1β (HNF-1β) gene, results in maturity-onset diabetes of the young (MODY) 5, which is characterized by gradual impairment of insulin secretion. However, the functional role of HNF-1β in insulin secretion and glucose metabolism is not fully understood. We identified a family with early-onset diabetes that fulfilled the criteria of MODY. Sanger sequ...
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