Deletion distal to the PAX6 coding region reveals a novel basis for familial cosegregation of aniridia and diabetes mellitus

Aniridia is a rare condition: the diagnostic feature is absence or hypoplasia of the iris, commonly with associated conditions, such as glaucoma and cataracts [1]. The prevalence of congenital aniridia ranges from 1:64,000 to 1:96,000 [2]. Approximately two thirds of aniridia cases show highly penetrant autosomal dominant inheritance [2].

Source: Diabetes Research and Clinical Practice - December 17, 2018 Category: Endocrinology Authors: Gemma C. Macdonald, Stephanie E. Hesselson, Jeng Yie Chan, Arthur B Jenkins, D. Ross Laybutt, Daniel Hesselson, Lesley V. Campbell Source Type: research