Hanson I M, Seawright A, Hardman K, Hodgson S, Zaletayev D, Fekete G, van Heyningen V
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK.
Hum Mol Genet. 1993 Jul;2(7):915-20. doi: 10.1093/hmg/2.7.915.
Aniridia is a congenital malformation of the eye, chiefly characterised by iris hypoplasia, which can cause blindness. The PAX6 gene was isolated as a candidate aniridia gene by positional cloning from the smallest region of overlap of aniridia-associated deletions. Subsequently PAX6 intragenic mutations were demonstrated in Smalleye, a mouse mutant which is an animal model for aniridia, and six human aniridia patients. In this paper we describe four additional PAX6 point mutations in aniridia patients, both sporadic and familial. These mutations highlight regions of the gene which are essential for normal PAX6 function. In addition, the frequency at which we have found PAX6 mutations suggests that lesions in PAX6 will account for most cases of aniridia.
无虹膜症是一种眼部先天性畸形，主要特征为虹膜发育不全，可导致失明。通过对与无虹膜症相关的缺失区域最小重叠区域进行定位克隆，PAX6基因被分离出来作为候选无虹膜症基因。随后，在小眼畸形小鼠（一种无虹膜症的动物模型）以及六名人类无虹膜症患者中发现了PAX6基因内突变。在本文中，我们描述了另外四个无虹膜症患者（包括散发性和家族性患者）中的PAX6点突变。这些突变突出了该基因中对于正常PAX6功能至关重要的区域。此外，我们发现PAX6突变的频率表明，PAX6基因的损伤将导致大多数无虹膜症病例。
