Heterozygous PAX6 mutations may lead to hyper-proinsulinaemia and glucose intolerance: A case-control study in families with congenital aniridia.

Aim: PAX6 is a transcription factor involved in embryonic development of many organs, including the eyes and the pancreas. Mutations of PAX6 gene is the main cause of a rare disease, congenital aniridia (CA). This case-control study aims to investigate the effects of PAX6 mutations on glucose metabolism and insulin secretion in families with CA.