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, vol.37, no.3, pp.323-326, 2017 (SCI-Expanded) identifier identifier


© 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.