A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5).
Intern Med
; 57(14): 2035-2039, 2018 Jul 15.
Article
em En
| MEDLINE
| ID: mdl-29491316
ABSTRACT
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.
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MEDLINE
Assunto principal:
Diabetes Mellitus Tipo 2
/
Fator 1-beta Nuclear de Hepatócito
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article