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

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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)

• Publication Type: Article / Article
• Volume: 37 Issue: 3
• Publication Date: 2017
• Doi Number: 10.1007/s13410-016-0539-9
• Journal Name: International Journal of Diabetes in Developing Countries
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.323-326
• Keywords: GCK-MODY, Obese patient, Novelmutation, GLUCOKINASE MUTATIONS, YOUNG
• Lokman Hekim University Affiliated: No

Abstract

© 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.