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Article

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

Diabetic medicine : a journal of the British Diabetic Association - 1 Feb 2021

Tian Wei, Zhu Xiao-Rong, Qiao Chun-Yan, Ma Ying-Nan, Yang Fang-Yuan, Zhou Zhen, Feng Jian-Ping, Sun Ran, Xie Rong-Rong, Lu Jing, Cao Xi, Zhou Jian-Bo, Yang Jin-Kui

Abstract excerpt

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. METHODS: In all, 21 families with CA were screened by Sanger...

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PMID: 33169869
DOI: 10.1111/dme.14456

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