A novel de novo duplication mutation of PAX6 in a Chinese family with aniridia and other ocular abnormalities.
A novel de novo duplication mutation of PAX6 in a Chinese family with aniridia and other ocular abnormalities.
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一个患有无虹膜和其他眼部异常的中国家庭中 PAX6 的新从头重复突变
DOI：
10.1038/srep04836
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发表时间：
2014-05-02
影响因子：
4.6
通讯作者：
Yang J
中科院分区：
文献类型：
--
作者：
Zhuang J;Chen X;Tan Z;Zhu Y;Zhao K;Yang J
无虹膜症是一种由配对盒基因 6 (PAX6) 突变引起的先天性全眼疾病。为了调查一个患有无虹膜和其他眼部异常的中国家庭的临床特征和潜在的遗传缺陷，我们招募了接受眼科检查的家庭成员。该家族的两名患者，即先证者及其受影响的儿子，均患有双侧无虹膜、中心凹发育不全和眼球震颤。此外，先证者也患有早老性白内障，但他患病的儿子在检查时并未表现出白内障。 PAX6 测序显示，在受影响的个体中发现了杂合重复突变 c.95_105dup11，预计会在位置 Gly36 (p.G36X) 处产生非功能性截短蛋白，但在任何未受影响的家庭成员（包括先证者的父母）中都没有发现。单倍型分析显示，先证者和他患病的儿子有一个共同的疾病相关单倍型，该单倍型是先证者未患病的父亲通过交叉产生的。总之，我们在无虹膜和其他眼部异常家族中发现了 PAX6 的一种新的从头重复突变。这种突变是通过直接复制在父本染色体上从头发生的，这可能是由于精子发生过程中复制滑移或不平等的非姐妹染色单体交换造成的。
Aniridia is a congenital panocular disorder caused by the mutations of the paired box gene-6 (PAX6). To investigate the clinical characterization and the underlying genetic defect in a Chinese family with aniridia and other ocular abnormalities, we recruited the family members who underwent ophthalmic examination. Two patients in this family, the proband and his affected son, both have bilateral aniridia, foveal hypoplasia and nystagmus. Moreover, the proband also had presenile cataracts, but his affected son did not show cataracts at the time of examination. Sequencing PAX6 revealed that a heterozygous duplication mutation c.95_105dup11, predicted to generate non-functional truncated protein at position Gly36 (p.G36X), was found in the affected individuals but not in any of the unaffected family members including the parents of the proband. Haplotype analysis showed that the proband and his affected son shared a common disease-related haplotype, which was arisen from the proband's unaffected father through crossing-over. In conclusion, we identified a novel de novo duplication mutation of PAX6 in the aniridia and other ocular abnormalities family. This mutation has occurred de novo on a paternal chromosome by direct duplication, which presumably results from replication slippage or unequal non-sister chromatids exchange during spermatogenesis.
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影响因子：
64.8
作者：
HILL, RE;FAVOR, J;VANHEYNINGEN, V
通讯作者：
VANHEYNINGEN, V
DOI：
10.3724/sp.j.1005.2008.01301
发表时间：
2008-10-01
期刊：
Yichuan
影响因子：
--
作者：
Sun Da-Guang;Yang Ju-Hua;Ma Xu
通讯作者：
Ma Xu
影响因子：
64.5
作者：
CALL, KM;GLASER, T;HOUSMAN, DE
通讯作者：
HOUSMAN, DE
PAX6突变：基因型 - 表型相关性。
影响因子：
2.9
作者：
Tzoulaki, I;White, IMS;Hanson, IM
通讯作者：
Hanson, IM
影响因子：
4.4
作者：
Hingorani, Melanie;Williamson, Kathleen A.;van Heyningen, Veronica
通讯作者：
van Heyningen, Veronica