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dc.contributor.authorZhuang, Jianfuzh_CN
dc.contributor.authorChen, Xiaolezh_CN
dc.contributor.authorTan, Zhihuazh_CN
dc.contributor.authorZhu, Yihuazh_CN
dc.contributor.authorZhao, Kanxingzh_CN
dc.contributor.authorYang, Juhuazh_CN
dc.contributor.author庄建福zh_CN
dc.date.accessioned2015-07-22T07:37:18Z
dc.date.available2015-07-22T07:37:18Z
dc.date.issued2014-05-02zh_CN
dc.identifier.citationSCIENTIFIC REPORTS, 2014,4:-zh_CN
dc.identifier.otherWOS:000335216100001zh_CN
dc.identifier.urihttps://dspace.xmu.edu.cn/handle/2288/93613
dc.descriptionNatural Science Foundation of Fujian Province [2010J06010]; Program for New Century Excellent Talents in Fujian Province University [JA10127]; Professor Academic Development Fund of Fujian Medical University [JS12003]; Key Program of Scientific Research of Fujian Medical University [09ZD016]zh_CN
dc.description.abstractAniridia 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.zh_CN
dc.language.isoen_USzh_CN
dc.publisherNATURE PUBLISHING GROUPzh_CN
dc.source.urihttp://dx.doi.org/10.1038/srep04836zh_CN
dc.subjectHOMEOBOX-CONTAINING GENEzh_CN
dc.subjectPARENTAL ORIGINzh_CN
dc.subjectMECHANISMSzh_CN
dc.subjectDISEASEzh_CN
dc.titleA novel de novo duplication mutation of PAX6 in a Chinese family with aniridia and other ocular abnormalitieszh_CN
dc.typeArticlezh_CN


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