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

[21] A novel synonymous substitution in the GCK gene causes aberrant splicing in an Italian patient with GCK-MODY phenotype
Costantini, Silvia
Prandini, Paola
Corradi, Massimiliano
Pasquali, Alessandra
Contreas, Giovanna
Pignatti, Pier Franco
Pinelli, Leonardo
Trabetti, Elisabetta
Maffeis, Claudio
DIABETES RESEARCH AND CLINICAL PRACTICE, 2011, 92 (01) : E23 - E26
[22] GCK exonic mutations induce abnormal biochemical activities and result in GCK-MODY
Dai, Tongtong
Yang, Yun
Zhang, Juanjuan
Ma, Xiaoyu
Chen, Lifen
Zhang, Caiping
Lv, Sheng
Li, Lin
Tang, Renqiao
Zhen, Ni
Lu, Wenli
Li, Chuanyin
Hu, Ronggui
Xiao, Yuan
Dong, Zhiya
FRONTIERS IN GENETICS, 2023, 14
[23] Patient Perspectives on the Impact of Diet on Glycemia in GCK-MODY
Letourneau, Lisa R.
Chan, Karen
Bermonth, Maria V. Salguero
Naylor, Rochelle N.
DIABETES, 2019, 68
[24] The impact of GCK-MODY on procreation, pregnancy and fetal development
Pachniak, Paulina
Moczulska, Hanna
Malarska, Maria
Materek-Kusmierkiewicz, Izabela
Jachacz, Ewa
Gadzalska, Karolina
Jakiel, Paulina
Zmyslowska, Agnieszka
Borowiec, Maciej
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 430 - 430
[25] Maternal and Infant Outcomes in GCK-MODY Complicated by Pregnancy
Ren, Qian
Wang, Zhihui
Yang, Wenjia
Han, Xueyao
Ji, Linong
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2023, 108 (10): : 2739 - 2746
[26] Prevalence of Retinopathy in Adult Patients with GCK-MODY and HNF1A-MODY
Szopa, M.
Wolkow, J.
Matejko, B.
Skupien, J.
Klupa, T.
Wybranska, I.
Trznadel-Morawska, I.
Kiec-Wilk, B.
Borowiec, M.
Malecki, M. T.
EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES, 2015, 123 (09) : 524 - 528
[27] Quality of life assessment in patients with HNF1A-MODY and GCK-MODY
Magdalena Szopa
Bartlomiej Matejko
Damian Ucieklak
Agata Uchman
Jerzy Hohendorff
Sandra Mrozińska
Wojciech Głodzik
Barbara Zapała
Teresa Płatek
Iwona Solecka
Cyrus M Sani
Maciej T. Małecki
Endocrine, 2019, 64 : 246 - 253
[28] Prevalence of retinopathy in adult patients with GCK-MODY and HNF1A-MODY
Szopa, M.
Wolkow, J.
Matejko, B.
Skupien, J.
Klupa, T.
Wybranska, I.
Borowiec, M.
Malecki, M. T.
DIABETOLOGIA, 2015, 58 : S197 - S197
[29] Quality of life assessment in patients with HNF1A-MODY and GCK-MODY
Szopa, Magdalena
Matejko, Bartlomiej
Ucieklak, Damian
Uchman, Agata
Hohendorff, Jerzy
Mrozinska, Sandra
Glodzik, Wojciech
Zapala, Barbara
Platek, Teresa
Solecka, Iwona
Sani, Cyrus M.
Malecki, Maciej T.
ENDOCRINE, 2019, 64 (02) : 246 - 253
[30] GCK-MODY and obesity: symptom overlap makes diagnosis difficult
Valeria Calcaterra
Corrado Regalbuto
Francesco Delle Cave
Daniela Larizza
Dario Iafusco
Acta Diabetologica, 2020, 57 : 627 - 629

← 1 2 3 4 5 →