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

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Authors
Gonc, E. N.
Ozon, A.
Alikasifoglu, A.
Haliloğlu, M.
Ellard, Sian
Shaw-Smith, Charles
Kandemir, N.
Journal
Hormone Research in Paediatrics
Type
Case Report
Publisher
Karger
Rights
Archived with thanks to Hormone research in pædiatrics
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.
Citation
Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation. 2015, 84 (3):206-11 Horm Res Paediatr
Note