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


Ucakturk S. A. , Gunindi F., Ceylaner S., Mengen E., Elmaogullari S., YÜKSEL B.

INTERNATIONAL JOURNAL OF DIABETES IN DEVELOPING COUNTRIES, cilt.37, ss.323-326, 2017 (SCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: 37 Konu: 3
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1007/s13410-016-0539-9
  • Dergi Adı: INTERNATIONAL JOURNAL OF DIABETES IN DEVELOPING COUNTRIES
  • Sayfa Sayısı: ss.323-326

Özet

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.