{Reference Type}: Case Reports
{Title}: A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5).
{Author}: Kato T;Tanaka D;Muro S;Jambaljav B;Mori E;Yonemitsu S;Oki S;Inagaki N;
{Journal}: Intern Med
{Volume}: 57
{Issue}: 14
{Year}: Jul 2018 15
{Factor}: 1.282
{DOI}: 10.2169/internalmedicine.9692-17
{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.