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PTF1A: Pancreatic and Cerebellar Agenesis 

PTF1A: Pancreatic and Cerebellar Agenesis
Chapter:
PTF1A: Pancreatic and Cerebellar Agenesis
Author(s):

Jayne A. L. Houghton

and Andrew T. Hattersley

DOI:
10.1093/med/9780199934522.003.0133
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date: 25 February 2021

Pancreatic and cerebellar agenesis is a discrete subgroup of patients who have permanent neonatal diabetes as a result of pancreatic agenesis. Patients with pancreatic and cerebellar agenesis 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 results from homozygous mutations in the gene (PTF1A) encoding the Pancreatic Transcription Factor 1A. This confirms that in man, as in animal models, PTF1A has a critical role in early pancreatic and neurological development.

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