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J Zhejiang Univ (Med Sci)  2019, Vol. 48 Issue (2): 200-203    DOI: 10.3785/j.issn.1008-9292.2019.04.12
A novel mutation W257R in GCK gene discovered from a Chinese patient with maturity onset diabetes of the young
HONG Pingping(),GUO Bingjie,LIN Li,LIN Xihua,ZHOU Jiaqiang*()
Department of Endocrinology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou 310016, China
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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 (GCK) gene from a Chinese patient with MODY. Heterozygous mutation c.769T>C (p.W257R) in exon 7 of GCK gene (Chr744187343) was found in the proband, her father and brother. This W257R mutation was first reported in Chinese population.

Key wordsGenes, dominant      Chromosomes, human      Mutation      Glucokinase/genetics      Diabetes mellitus, type 2/genetics      Pedigree      China      Case reports     
Received: 30 November 2018      Published: 24 July 2019
CLC:  Q344  
Corresponding Authors: ZHOU Jiaqiang     E-mail:;
Cite this article:

HONG Pingping,GUO Bingjie,LIN Li,LIN Xihua,ZHOU Jiaqiang. A novel mutation W257R in GCK gene discovered from a Chinese patient with maturity onset diabetes of the young. J Zhejiang Univ (Med Sci), 2019, 48(2): 200-203.

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关键词: 基因, 显性,  染色体, 人,  突变,  葡糖激酶/遗传学,  糖尿病, 2型/遗传学,  系谱,  中国,  病例报告 
Fig 1 The pedigree of patient with glucokinase (GCK) gene heterozygous mutation(c.769T>C; p.W257R)
Fig 2 Sequencing diagram of the heterozygote mutation in the exon 7 of the glucokinase (GCK) gene of this pedigree (c.769T>C; p.W257R)
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