Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation

GÖNÇ E. N., Ozon A., ALİKAŞİFOĞLU A., HALİLOĞLU M., Ellard S., Shaw-Smith C., ...More

HORMONE RESEARCH IN PAEDIATRICS, vol.84, no.3, pp.206-211, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 84 Issue: 3
  • Publication Date: 2015
  • Doi Number: 10.1159/000435782
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.206-211
  • Hacettepe University Affiliated: Yes


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