A novel PAX6 nonsense mutation identified in an Iranian family with various eye anomalies.
A novel PAX6 nonsense mutation identified in an Iranian family with various eye anomalies.
复制标题
一种新型的PAX6胡说八道突变在具有各种眼异常的伊朗家族中鉴定出来。
DOI：
10.1016/j.joco.2017.12.006
复制
发表时间：
2018-09
影响因子：
1.5
通讯作者：
Hashemi H
中科院分区：
文献类型：
--
作者：
Torkashvand A;Mohebbi M;Hashemi H
本研究的目的是检测包括部分虹膜缺乏症、先天性白内障和眼球震颤在内的不同表型眼畸形患者的大量家系中的遗传缺陷。用聚合酶链式反应(PCR)扩增PAX6基因的全部编码区，测序，并与GenBank数据库进行比较。在先证者和所有受影响的成员中发现了一种新的突变(c.1170；C>；p.Gln297X)。这种无义突变导致PAX6蛋白截断。我们的发现表明，这种新的突变很可能是该家系中先天性无虹膜、白内障和眼球震颤的致病原因。据我们所知，这是在一个有各种眼部异常的家系中首次报道PAX6基因的这种突变。
The aim of this study was to detect the genetic defects in a large pedigree of affected individuals with various phenotypes of ocular anomalies including partial aniridia, congenital cataract, and nystagmus. The entire coding region of paired box gene 6 (PAX6) was amplified by polymerase chain reaction (PCR), sequenced, and compared with a GenBank database. A novel mutation (c.1170 C > T; p.Gln297X) was found in the proband and all affected members. This nonsense mutation leads to PAX6 protein truncation. Our findings suggest that this novel mutation is most likely responsible for the pathogenesis of the congenital aniridia, cataract, and nystagmus in this pedigree. To the best of our knowledge, this is the first report of this mutation of PAX6 gene in a kindred pedigree with various ocular abnormalities.