A novel genetic mutation in a Turkish family with GCK-MODY

被引：0

作者：

S. Ahmet Ucakturk

Figen Gunindi

Serdar Ceylaner

Eda Mengen

Selin Elmaogulları

Bilgin Yuksel

机构：

[1] Ankara Children’s Hematology and Oncology Training Hospital,Department of Pediatric Endocrinology

[2] Medical Park Hospital,Department of Pediatric Endocrinology

[3] Intergen Laboratory,Human Genetics

[4] Çukurova University,Department of Pediatric Endocrinology

来源：

International Journal of Diabetes in Developing Countries | 2017年 / 37卷

关键词：

GCK-MODY; Obese patient; Novel mutation;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

Glucokinase-maturity-onset diabetes of the young (GCK-MODY) is an autosomal dominantly inherited disease caused by heterozygous inactivating mutations in the glucokinase gene. It usually presents with mild fasting hyperglycemia. Here, we present an obese patient and her family with GCK-MODY caused by a novel heterozygous p.E51*(c.151.G>T) mutation in the GCK gene.

引用

页码：323 / 326

页数：3

共 50 条

[1] A novel genetic mutation in a Turkish family with GCK-MODY
Ucakturk, S. Ahmet
Gunindi, Figen
Ceylaner, Serdar
Mengen, Eda
Elmaogullari, Selin
Yuksel, Bilgin
INTERNATIONAL JOURNAL OF DIABETES IN DEVELOPING COUNTRIES, 2017, 37 (03) : 323 - 326
[2] A novel genetic mutation in a Portuguese family with GCK-MODY
Almeida, Claudia
Silva, Sonia Regina
Garcia, Elsa
Leite, Ana Luisa
Teles, Andreia
Campos, Rosa Armenia
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2014, 27 (1-2): : 129 - 133
[3] Identification of a novel glucokinase mutation in an Indian woman with GCK-MODY
Jha, Sujeet
Siddiqui, Samreen
Waghdhare, Swati
Dubey, Shweta
Krishna, Shuba
Subramanian, Kalyanasundaram
Dikshit, Jyoti Bajpai
Ravikiran, L.
Bhargava, Amit
LANCET DIABETES & ENDOCRINOLOGY, 2016, 4 (04): : 302 - 302
[4] Distinct Effects of a Novel GCK-MODY Mutation on Lipid Profiles and Diabetic Complications
Huang, Yadi
Fan, Yuxin
Li, Xin
Ji, Shuhui
Chen, Shanshan
Cui, Jingqiu
Feng, Wenli
Shu, Hua
Liu, Ming
DIABETES, 2023, 72
[5] Clinical, Laboratory and Genetic Characteristics of Children with GCK-MODY (MODY2): Report of Four Novel Variants in GCK Gene
Altan, Mustafa
Anik, Ayse
Bayar, Nilay Tugce Isik
Bozkurt, Gokay
Unuvar, Tolga
Anik, Ahmet
TRENDS IN PEDIATRICS, 2020, 1 (01): : 5 - 10
[6] Genetic and bioinformatics analysis of four novel GCK missense variants detected in Caucasian families with GCK-MODY phenotype
Costantini, S.
Malerba, G.
Contreas, G.
Corradi, M.
Vargas, S. P. Marin
Giorgetti, A.
Maffeis, C.
CLINICAL GENETICS, 2015, 87 (05) : 440 - 447
[7] GCK-MODY: Is Dorzagliatin safe and effective?
Simon, Annika
DIABETOLOGIE UND STOFFWECHSEL, 2024, 19 (05) : 317 - 318
[8] Management of hyperglycemia in GCK-MODY Pregnancies
Wong, E.
Ng, N.
Bacon, S.
Byrne, M. M.
IRISH JOURNAL OF MEDICAL SCIENCE, 2018, 187 : S225 - S225
[9] GCK-MODY frequently misdiagnosed and inappropriately treated
Boyd, S.
McCaffrey, F. G.
Bacon, S.
Zamuner, Mijares M. B.
Byrne, M. M.
IRISH JOURNAL OF MEDICAL SCIENCE, 2017, 186 : S357 - S358
[10] Quality of life assessment in patients with genetic diagnosis of HNF1A-MODY and GCK-MODY
Szopa, M.
Matejko, B.
Ucieklak, D.
Uchman, A.
Zapala, B.
Platek, T.
Hohendorff, J.
Mrozinska, S.
Malecki, M.
DIABETOLOGIA, 2016, 59 : S165 - S165

← 1 2 3 4 5 →