Heterozygous lys169Glu mutation of glucokinase gene in a Chinese family having glucokinase-maturity-onset diabetes of the young (GCK-MODY)

被引：1

作者：

Zhou, W. ^{[1
]}

Chen, M. ^{[1
]}

Zhou, H. ^{[1
]}

Zhang, Z. ^{[1
]}

机构：

[1] Zhejiang Univ, Coll Med, Affiliated Hosp 1, Dept Endocrinol, Hangzhou, Zhejiang, Peoples R China

来源：

JOURNAL OF POSTGRADUATE MEDICINE | 2019年 / 65卷 / 04期

关键词：

Glucokinase; glucokinase-MODY; Lys169Glu mutation; missense mutation; HYPERGLYCEMIA;

D O I：

10.4103/jpgm.JPGM_166_19

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We report a 24-year-old female with early-onset and persistent mild fasting hyperglycemia due to glucokinase-maturity-onset diabetes of the young (GCK-MODY). A c.505A>G (p. Lys169Glu) missense mutation of the GCK gene was identified. In silico analysis indicated that the mutation affected a conserved amino acid and is disease-causing. This report describes GCK-MODY in a Chinese family and stresses that in managing this condition it is important to avoid unnecessary drug treatment and excessive anxiety about mild hyperglycemia.

引用

页码：241 / 243

页数：3

共 10 条

[1] INSULIN SECRETORY ABNORMALITIES IN SUBJECTS WITH HYPERGLYCEMIA DUE TO GLUCOKINASE MUTATIONS [J].

BYRNE, MM ;

STURIS, J ;

CLEMENT, K ;

VIONNET, N ;

PUEYO, ME ;

STOFFEL, L ;

TAKEDA, J ;

PASSA, P ;

COHEN, D ;

BELL, GI ;

VELHO, G ;

FROGUEL, P ;

POLONSKY, KS .

JOURNAL OF CLINICAL INVESTIGATION, 1994, 93 (03) :1120-1130

[2] Glucokinase (GCK) mutations in hyper- and hypoglycemia:: Maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy [J].

Gloyn, AL .

HUMAN MUTATION, 2003, 22 (05) :353-362

[3] Type 2 diabetes in East Asians: similarities and differences with populations in Europe and the United States [J].

Ma, Ronald C. W. ;

Chan, Juliana C. N. .

YEAR IN DIABETES AND OBESITY, 2013, 1281 :64-91

[4] Regulation of pancreatic β-cell glucokinase -: From basics to therapeutics [J].

Matschinsky, FM .

DIABETES, 2002, 51 :S394-S404

[5] Glucokinase, glucose homeostasis, and diabetes mellitus [J].

Matschinsky F.M. .

Current Diabetes Reports, 2005, 5 (3) :171-176

[6] Update on Mutations in Glucokinase (GCK), Which Cause Maturity-Onset Diabetes of the Young, Permanent Neonatal Diabetes, and Hyperinsulinemic Hypoglycemia [J].

Osbak, Kara K. ;

Colclough, Kevin ;

Saint-Martin, Cecile ;

Beer, Nicola L. ;

Bellanne-Chantelot, Christine ;

Ellard, Sian ;

Gloyn, Anna L. .

HUMAN MUTATION, 2009, 30 (11) :1512-1526

[7] Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology [J].

Richards, Sue ;

Aziz, Nazneen ;

Bale, Sherri ;

Bick, David ;

Das, Soma ;

Gastier-Foster, Julie ;

Grody, Wayne W. ;

Hegde, Madhuri ;

Lyon, Elaine ;

Spector, Elaine ;

Voelkerding, Karl ;

Rehm, Heidi L. .

GENETICS IN MEDICINE, 2015, 17 (05) :405-424

[8] A report of 2 new cases of MODY2 and review of the literature: Implications in the search for type 2 Diabetes drugs [J].

Shammas, Christos ;

Neodeous, Vassos ;

Phelan, Marie M. ;

Lian, Lu-Yun ;

Skordis, Nicos ;

Phylactou, Leonidas A. .

METABOLISM-CLINICAL AND EXPERIMENTAL, 2013, 62 (11) :1535-1542

[9] Insight into the biochemical characteristics of a novel glucokinase gene mutation [J].

Shen, Yunfeng ;

Cai, Mengyin ;

Liang, Hua ;

Wang, Hongwei ;

Weng, Jianping .

HUMAN GENETICS, 2011, 129 (03) :231-238

[10] Prevalence of Vascular Complications Among Patients With Glucokinase Mutations and Prolonged, Mild Hyperglycemia [J].

Steele, Anna M. ;

Shields, Beverley M. ;

Wensley, Kirsty J. ;

Colclough, Kevin ;

Ellard, Sian ;

Hattersley, Andrew T. .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2014, 311 (03) :279-286

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