PTF1A GENE ANALYSIS IN NEONATAL DIABETES MELLITUS AND CEREBELLAR AGENESIS
Pancreatic and cerebellar agenesis (OMIM: 607194) is found in a discrete subgroup of patients who have permanent neonatal diabetes as a result of pancreatic agenesis. These patients present in the first week of life with diabetes requiring insulin treatment, very low birth weight, abnormal facies, and are subsequently detected as having pancreatic exocrine failure and pancreatic aplasia. Neurological features include central hypoventilation, optic nerve hypoplasia, developmental delay and cerebellar aplasia. This clinical syndrome shows autosomal recessive inheritance and results from variants in the PTF1A gene encoding the Pancreatic Transcription Factor 1A (Sellick et al. 2004 Nature Genet 36;1301-1305).
The laboratory participates in the European Molecular Genetics Quality Network (EMQN)sequencing scheme.
Please follow the link below to the relevant diabetesgenes website page for Neonatal Diabetes information and forms: