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OPENSUBJECT Locations:HEREDITARY EYE Illness GENETICS CLINICAL GENETICSA novel de novo duplication mutation of PAX6 inside a Chinese family with aniridia along with other ocular abnormalitiesJianfu Zhuang1,2*, Xiaole Chen3*, Zhihua Tan3, Yihua Zhu4, Kanxing Zhao2 Juhua YangReceived 25 November 2013 Accepted 31 March 2014 Published 2 MayXiamen Eye Center of Xiamen University, Xiamen, Fujian, China, 2Clinical College of Ophthalmology, Tianjin Medical University, Tianjin, China, 3Biomedical Engineering Center, Fujian Medical University, Fuzhou, Fujian, China, 4Department of Ophthalmology, The very first Affiliated Hospital of Fujian Health-related University, Fuzhou, Fujian, China.PMID:23398362 Correspondence and requests for materials really should be addressed to K.X.Z. (zkx4260@vip. 163) or J.H.Y. (julian_yang@fjmu. edu.cn)Aniridia is really a congenital panocular disorder triggered by the mutations of the paired box gene-6 (PAX6). To investigate the clinical characterization as well as the underlying genetic defect in a Chinese family members with aniridia along with other ocular abnormalities, we recruited the members of the family who underwent ophthalmic examination. Two patients within this family members, the proband and his impacted son, both have bilateral aniridia, foveal hypoplasia and nystagmus. Furthermore, the proband also had presenile cataracts, but his affected son did not show cataracts in the time of examination. Sequencing PAX6 revealed that a heterozygous duplication mutation c.95_105dup11, predicted to create non-functional truncated protein at position Gly36 (p.G36X), was identified inside the affected men and women but not in any with the unaffected family members like the parents from the proband.
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