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Ophthalmic Genet. 2018 Aug;39(4):428-436. doi: 10.1080/13816810.2018.1466336. Epub 2018 Jun 14.

A novel deletion downstream of the PAX6 gene identified in a Chinese family with congenital aniridia.

Liu X1,2,3, Wu Y1,2, Miao Z4,5,6,7, Zhang H1,2, Gong B1,2, Zhu X1,2,8,9, Huang L1,2,8,9, Shi Y1,2,8,9, Hao F1, Ma S1, Lin H1, Wang L4,5,6,7, Yang Z1,2,8,9.

Author information

a Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine , University of Electronic Science and Technology of China , Chengdu , China.
b Center of Information in Biomedicine , University of Electronic Science and Technology of China , Chengdu , China.
c School of Materials Science and Engineering , Southwest Jiaotong University , Chengdu , Sichuan , China.
d Department of Ophthalmology, Key Laboratory of Vision Loss and Restoration, Ministry of Education , Peking University People's Hospital , Beijing , China.
e Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases , Beijing , China.
f College of Optometry , Peking University Health Science Center , Beijing , China.
g Center of Optometry , Peking University People's Hospital , Beijing , China.
h Institute of Chengdu Biology , Chinese Academy of Sciences , Chengdu , China.
i Sichuan Translational Medicine Hospital , Chinese Academy of Sciences , Chengdu , China.



Congenital aniridia, a severe bilateral panocular visual disorder, is an autosomal dominantly inherited eye anomaly. Mutations in the paired box 6 gene (PAX6) have been shown to be responsible for congenital aniridia in most patients. The purpose of the present study was to report clinical features of a Chinese family with congenital aniridia and to screen novel genetic mutations for congenital aniridia.


All members of a three-generation family underwent comprehensive ophthalmic examination, and 8 of its 25 members were diagnosed with congenital aniridia. The proband was analyzed by exome sequencing and whole genome sequencing, and linkage analysis was performed for the family. The mutation was confirmed by direct DNA sequencing.


Using Illumina's Human Linkage-12 beadchip microarray (including 6090 SNPs) whole genome scan, the LOD score value showed that the interval on chromosome 11 between rs1389423 to rs910090 exhibited a strong linkage. A novel heterozygous 469 kb deletion mutation within the downstream region of PAX6 (chr11:31189937-31659379) was identified in all affected family members, but not in unaffected family members or 2000 ethnically matched controls.


A novel deletion mutation was identified within the PAX6 downstream region that results in congenital aniridia.


Aniridia; PAX6; downstream deletion

[Indexed for MEDLINE]

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