| Title | A novel deletion downstream of the PAX6 gene identified in a Chinese family with congenital aniridia |
| Authors | Liu, Xiaoqi Wu, Yaqi Miao, Zequn Zhang, Houbin Gong, Bo Zhu, Xianjun Huang, Lulin Shi, Yi Hao, Fang Ma, Shi Lin, He Wang, Lejin Yang, Zhenglin |
| Affiliation | Sichuan Acad Med Sci, Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R China. Univ Elect Sci & Technol China, Sch Med, Sichuan Prov Peoples Hosp, Chengdu, Sichuan, Peoples R China. Univ Elect Sci & Technol China, Ctr Informat Biomed, Chengdu, Sichuan, Peoples R China. Southwest Jiaotong Univ, Sch Mat Sci & Engn, Chengdu, Sichuan, Peoples R China. Peking Univ, Minist Educ, Peoples Hosp, Dept Ophthalmol,Key Lab Vis Loss & Restorat, Beijing, Peoples R China. Beijing Key Lab Diag & Therapy Retinal & Choroid, Beijing, Peoples R China. Peking Univ, Hlth Sci Ctr, Coll Optometry, 49 North Garden Rd, Beijing 100191, Peoples R China. Peking Univ, Peoples Hosp, Ctr Optometry, 49 North Garden Rd, Beijing 100191, Peoples R China. Chinese Acad Sci, Inst Chengdu Biol, Chengdu, Sichuan, Peoples R China. Chinese Acad Sci, Sichuan Translat Med Hosp, Chengdu, Sichuan, Peoples R China. Peking Univ, Hlth Sci Ctr, Coll Optometry, 49 North Garden Rd, Beijing 100191, Peoples R China. Wang, LJ (reprint author), Peking Univ, Peoples Hosp, Ctr Optometry, 49 North Garden Rd, Beijing 100191, Peoples R China. Yang, ZL (reprint author), Univ Elect Sci & Technol China, Sichuan Prov Key Lab Dis Study Gen7e, 32 Rd West 2,First Ring, Chengdu 610072, Sichuan, Peoples R China. Yang, ZL (reprint author), Sichuan Prov Peoples Hosp, 32 Rd West 2,First Ring, Chengdu 610072, Sichuan, Peoples R China. |
| Keywords | Aniridia PAX6 downstream deletion HUMAN PAX6 GENE MENTAL-RETARDATION NERVOUS-SYSTEM MUTATIONS 11P13 PHENOTYPE ANOMALIES GENOTYPE REGION |
| Issue Date | 2018 |
| Publisher | OPHTHALMIC GENETICS |
| Citation | OPHTHALMIC GENETICS. 2018, 39(4), 428-436. |
| Abstract | Purpose: 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. Methods: 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. Results: 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. Conclusion: A novel deletion mutation was identified within the PAX6 downstream region that results in congenital aniridia. |
| URI | http://hdl.handle.net/20.500.11897/524931 |
| ISSN | 1381-6810 |
| DOI | 10.1080/13816810.2018.1466336 |
| Indexed | SCI(E) PubMed |
| Appears in Collections: | 人民医院 |
