在中国一对患有先天性无虹膜并伴有眼球震颤的双胞胎家族中鉴定出一种新的PAX6突变。

A novel mutation of PAX6 identified in a Chinese twin family with congenital aniridia complicated with nystagmus.

作者信息

Cao X, Zhou X M, Gan R, Jiang L Q, Lu L, Wang Y, Fan N, Yin Y, Yan N H, Yu W H, Liu X Y

机构信息

Ophthalmic Laboratories & Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China.

Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China.

出版信息

Genet Mol Res. 2014 Oct 27;13(4):8679-85. doi: 10.4238/2014.October.27.8.

DOI:10.4238/2014.October.27.8

PMID:25366758

Abstract

Genetic variations within the paired box gene 6 (PAX6) gene are associated with congenital aniridia. To detect the genetic defects in a Chinese twin family with congenital aniridia and nystagmus, exons of PAX6 were amplified by polymerase chain reaction (PCR), sequenced and compared with a reference database. Six members from the family of three generations were included in the study. The twins' father presented with congenital aniridia, nystagmus and cataract at birth, while the twins presented with congenital aniridia and nystagmus. A novel mutation c.888 insA in exon 10 of PAX6 was identified in all affected individuals. This study suggests that the novel mutation c.888 insA is likely responsible for the pathogenesis of the congenital aniridia and nystagmus in this pedigree. To the best of our knowledge, this is the first report of this mutation in PAX6 gene in pedigree with aniridia. Furthermore, no PAX6 gene defect was reported in twins with congenital aniridia.

摘要

配对盒基因6（PAX6）内的基因变异与先天性无虹膜相关。为检测一个患有先天性无虹膜和眼球震颤的中国双胞胎家族中的基因缺陷，通过聚合酶链反应（PCR）扩增PAX6的外显子，进行测序并与参考数据库进行比较。该研究纳入了来自三代家族的六名成员。双胞胎的父亲出生时患有先天性无虹膜、眼球震颤和白内障，而双胞胎患有先天性无虹膜和眼球震颤。在所有受影响个体中均鉴定出PAX6第10外显子的一个新突变c.888 insA。本研究表明，新突变c.888 insA可能是该家系中先天性无虹膜和眼球震颤发病机制的原因。据我们所知，这是PAX6基因中该突变在无虹膜家系中的首次报道。此外，未报道过患有先天性无虹膜的双胞胎存在PAX6基因缺陷。