A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5)
| Autor: | Shogo Oki, Byambatseren Jambaljav, Tomoko Kato, Seiji Muro, Daisuke Tanaka, Eisaku Mori, Shin Yonemitsu, Nobuya Inagaki |
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| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Male HNF1B Mutation Missense 030209 endocrinology & metabolism Case Report Maturity onset diabetes of the young renal cysts 03 medical and health sciences 0302 clinical medicine Central Nervous System Diseases Diabetes mellitus Internal Medicine Medicine Missense mutation Humans Child Dental Enamel Gene pancreatic atrophy Hepatocyte Nuclear Factor 1-beta Genetics POU domain business.industry MODY5 General Medicine Kidney Diseases Cystic medicine.disease HNF1B Gene 030104 developmental biology Phenotype Diabetes Mellitus Type 2 Mutation (genetic algorithm) Mutation business |
| Zdroj: | Internal Medicine |
| ISSN: | 1349-7235 0918-2918 |
| Popis: | Maturity-onset diabetes of the young (MODY) is an autosomal dominant form of early onset diabetes. The hepatocyte nuclear factor-1-beta (HNF1B) gene is responsible for MODY type 5 (MODY5) with distinctive clinical features, including pancreatic atrophy and renal disease. We herein report a Japanese case of young-onset diabetes with typical phenotypes of MODY5 and a novel heterozygous missense mutation (p.L145Q) in the HNF1B gene. The mutation was located in the Pit-Oct-Unc (POU)-specific domain, and the amino acid residue L145 was highly conserved among species. It is strongly suggested that this mutation explains the phenotypes of MODY5. |
| Databáze: | OpenAIRE |
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