Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation.
Author
Gonc, E. N.
Ozon, A.
Alikasifoglu, A.
Haliloğlu, M.
Ellard, Sian
Shaw-Smith, Charles
Kandemir, N.
Date
2015Journal
Hormone Research in PaediatricsType
Case ReportPublisher
KargerDOI
10.1159/000435782Rights
Archived with thanks to Hormone research in pædiatricsMetadata
Show full item recordAbstract
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.