Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation
HORMONE RESEARCH IN PAEDIATRICS, cilt.84, sa.3, ss.206-211, 2015 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 84 Sayı: 3
- Basım Tarihi: 2015
- Doi Numarası: 10.1159/000435782
- Dergi Adı: HORMONE RESEARCH IN PAEDIATRICS
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.206-211
- Hacettepe Üniversitesi Adresli: Evet
Özet
Neonatal diabetes is a rare form of diabetes, characterized by onset in the first 6 months of life. A number of cases are due to pancreas agenesis. Recently, PTF1A enhancer mutations have been shown to cause neonatal diabetes associated with pancreatic agenesis. Herein, we report the clinical features of two siblings with PTF1A enhancer mutations, one of whom had neonatal diabetes, whereas the elder sister had a milder form of the disease with onset of diabetes at 9 years of age. (C) 2015 S. Karger AG, Basel