Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families.
Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families.
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DOI：
10.1038/hgv.2014.8
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发表时间：
2014
影响因子：
1.5
通讯作者：
Bouhamed HC
中科院分区：
文献类型：
--
作者：
Chograni M;Derouiche K;Chaabouni M;Lariani I;Bouhamed HC
本研究的目的是确定两个突尼斯家庭中导致无虹膜和先天性白内障的遗传缺陷。对F1家族PAX6基因的测序发现，外显子6有一个新的c.265C>T转位。在家族F2中，在四个受影响的成员中检测到先前描述的PAX6中的c.718C>T突变。本研究为先前报道的PAX6突变增加了新的突变，为无虹膜眼畸形个体的遗传和表型异质性提供了进一步的证据。
The aim of this study was to identify the genetic defect that is responsible for aniridia and congenital cataracts in two Tunisian families. Sequencing of the PAX6 gene in family F1 detected a novel c.265C>T transition in exon 6. In family F2, the previously described c.718C>T mutation in PAX6 was detected in the four affected members. This study adds new mutation to those previously reported in PAX6, providing further evidence for the genetic and phenotypic heterogeneity in individuals with aniridia ocular malformations.