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

作者：Ucakturk S Ahmet^*; Gunindi Figen; Ceylaner Serdar; Mengen Eda; Elmaogullari Selin; Yuksel Bilgin

来源：International Journal of Diabetes in Developing Countries, 2017, 37(3): 323-326.

DOI：10.1007/s13410-016-0539-9

• GCK-MODY
• Obese patient
• Novelmutation

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.

• 出版日期2017-9