A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population

Chen Fang; Jian Huang; Yun Huang; Linqi Chen; Xiuli Chen; Ji Hu

doi:10.1016/j.diabres.2015.05.026

A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population

Diabetes Res Clin Pract. 2015 Aug;109(2):e5-7. doi: 10.1016/j.diabres.2015.05.026. Epub 2015 May 15.

Authors

Chen Fang¹, Jian Huang², Yun Huang¹, Linqi Chen³, Xiuli Chen³, Ji Hu⁴

Affiliations

¹ Department of Endocrinology, 2nd Affiliated Hospital of Soochow University, Suzhou 215004, China.
² School of Basic Medicine and Biological Sciences, Medical College of Soochow University, Suzhou 215123, China.
³ Department of Endocrinology, Children's Hospital of Soochow University, Suzhou 215003, China.
⁴ Department of Endocrinology, 2nd Affiliated Hospital of Soochow University, Suzhou 215004, China. Electronic address: huji@suda.edu.cn.

PMID: 26050565
DOI: 10.1016/j.diabres.2015.05.026

Abstract

We reported a novel nonsense mutation, R54X of the hepatic nuclear factor 1α (HNF1α) gene in a Chinese family. The mutation was identified in a 47 years old woman and her 19 years old daughter within a five-family members tested. Both the two patients were sensitive to insulin and glibenclamide treatments.

Keywords: Hepatocyte nuclear factor 1-alpha; Maturity-onset diabetes of the young, type 3; Nonsense mutation.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

China
Codon, Nonsense
DNA Mutational Analysis
Diabetes Mellitus, Type 2 / epidemiology
Diabetes Mellitus, Type 2 / genetics*
Diabetes Mellitus, Type 2 / metabolism
Female
Hepatocyte Nuclear Factor 1-alpha / genetics*
Hepatocyte Nuclear Factor 1-alpha / metabolism
Humans
Mutation*
Young Adult

Substances

Codon, Nonsense
Hepatocyte Nuclear Factor 1-alpha

Supplementary concepts

Mason-Type Diabetes