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

Ahmet Ucakturk S., Gunindi F., CEYLANER S., Mengen E., Elmaogulları S., YÜKSEL B.

International Journal of Diabetes in Developing Countries, cilt.37, sa.3, ss.323-326, 2017 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 37 Sayı: 3
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1007/s13410-016-0539-9
  • Dergi Adı: International Journal of Diabetes in Developing Countries
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.323-326
  • Anahtar Kelimeler: GCK-MODY, Obese patient, Novelmutation, GLUCOKINASE MUTATIONS, YOUNG
  • Lokman Hekim Üniversitesi Adresli: Hayır

Özet

© 2016, Research Society for Study of Diabetes in India.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.