A novel mutation W257R in gene discovered from a Chinese patient with maturity onset diabetes of the young.
- Author:
Pingping HONG
1
;
Bingjie GUO
1
;
Li LIN
1
;
Xihua LIN
1
;
Jiaqiang ZHOU
1
Author Information
1. Department of Endocrinology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou 310016, China.
- Publication Type:Case Reports
- MeSH:
China;
Diabetes Mellitus, Type 2;
genetics;
Female;
Glucokinase;
genetics;
Humans;
Male;
Mutation;
Pedigree
- From:
Journal of Zhejiang University. Medical sciences
2019;48(2):200-203
- CountryChina
- Language:Chinese
-
Abstract:
Maturity onset diabetes of the young (MODY) is a monogenic autosomal dominant inherited disease. Its clinical manifestations are asymptomatic with slightly elevated fasting blood glucose and few complications. This paper reports a novel mutation W257R in glucokinase () gene from a Chinese patient with MODY. Heterozygous mutation c.769T>C (p.W257R) in exon 7 of gene (Chr744187343) was found in the proband, her father and brother. This W257R mutation was first reported in Chinese population.
