A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2

被引：3

作者：

Papadimitriou, D. T. ^{[1
,5
]}

Willems, P. J. ^{[2
]}

Bothou, C. ^{[3
]}

Karpathios, T. ^{[4
]}

Papadimitriou, A. ^{[5
]}

机构：

[1] Athens Med Ctr, Dept Paediat Adolescent Endocrinol & Diabet, Athens, Greece

[2] Genet Diagnost Network GENDIA, Antwerp, Belgium

[3] Univ Athens, Sch Med, GR-11527 Athens, Greece

[4] Athens Med Ctr, Dept Pediat, Athens, Greece

[5] Attikon Univ Hosp, Pediat Endocrine Unit, Dept Pediat 3, Athens, Greece

来源：

DIABETES & METABOLISM | 2015年 / 41卷 / 04期

关键词：

Anti-GAD antibodies; Glucokinase; Hyperglycaemia; Maturity-onset diabetes of the young; MODY; MODY;

D O I：

10.1016/j.diabet.2015.03.009

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：342 / 343

页数：2

共 10 条

[1]

American Diabetes Association, 2014, DIABETES CARE S1, V37, P53

[2] Clinical Heterogeneity in Monogenic Diabetes Caused by Mutations in the Glucokinase Gene (GCK-MODY) [J].

Cuesta-Munoz, Antonio L. ;

Tuomi, Tiinamaija ;

Cobo-Vuilleumier, Nadia ;

Koskela, Hanna ;

Odili, Stella ;

Stride, Amanda ;

Buettger, Carol ;

Otonkoski, Timo ;

Froguel, Philippe ;

Grimsby, Joseph ;

Garcia-Gimeno, Maria ;

Matschinsky, Franz M. .

DIABETES CARE, 2010, 33 (02) :290-292

[3] Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young [J].

Ellard, S. ;

Bellanne-Chantelot, C. ;

Hattersley, A. T. .

DIABETOLOGIA, 2008, 51 (04) :546-553

[4] Clinical features and treatment of maturity onset diabetes of the young (MODY) [J].

Gardner, Daphne S. L. ;

Tai, E. Shyong .

DIABETES METABOLIC SYNDROME AND OBESITY-TARGETS AND THERAPY, 2012, 5 :101-108

[5] 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

[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] Negativation of type 1 diabetes-associated autoantibodies to glutamic acid decarboxylase and insulin in children treated with oral calcitriol [J].

Papadimitriou, Dimitrios T. ;

Marakaki, Chrisanthi ;

Fretzayas, Andreas ;

Nicolaidou, Polyxeni ;

Papadimitriou, Anastasios .

JOURNAL OF DIABETES, 2013, 5 (03) :344-348

[8] Maturity-onset diabetes of the young (MODY): how many cases are we missing? [J].

Shields, B. M. ;

Hicks, S. ;

Shepherd, M. H. ;

Colclough, K. ;

Hattersley, A. T. ;

Ellard, S. .

DIABETOLOGIA, 2010, 53 (12) :2504-2508

[9] Screening for MODY mutations, GAD antibodies, and type 1 diabetes-associated HLA genotypes in women with gestational diabetes mellitus [J].

Weng, JP ;

Ekelund, M ;

Lehto, M ;

Li, HY ;

Ekberg, G ;

Frid, A ;

Åberg, A ;

Groop, LC ;

Berntorp, K .

DIABETES CARE, 2002, 25 (01) :68-71

[10] Autoantibody appearance and risk for development of childhood diabetes in offspring of parents with type 1 diabetes - The 2-year analysis of the German BABYDIAB study [J].

Ziegler, AG ;

Hummel, M ;

Schenker, M ;

Bonifacio, E .

DIABETES, 1999, 48 (03) :460-468

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