IMHE OpenIR
A Novel PAX6 Heterozygous Mutation Found in a Chinese Family with Congenital Aniridia
Xiao, Ying1; Liu, Xiangqin2,3,4,5; Yang, Chen2,3,4; Liu, Liping1; Guo, Xiaoxin2,3,4; Wang, Qi1; Gong, Bo2,3,4,5
Corresponding AuthorWang, Qi(drwangqi@hotmail.com) ; Gong, Bo(gongbo2007@hotmail.com)
2019-07-01
Source PublicationGENETIC TESTING AND MOLECULAR BIOMARKERS
ISSN1945-0265
Volume23Issue:7Pages:495-500
AbstractPurpose: Congenital aniridia is a kind of panocular disorder characterized by the absence of iris in both eyes. Paired box 6 (PAX6) gene mutation has been identified to be the most common cause of congenital aniridia. The aim of this study was to reveal the genetic defect in PAX6 in a Chinese family with congenital aniridia. Methods: Twelve individuals from a three-generation Chinese family were recruited. All the family members underwent comprehensive ophthalmologic examinations. The entire coding region of PAX6 was amplified by polymerase chain reaction, followed by direct Sanger sequencing. Possible structural and functional changes of the protein were predicted by bioinformatic analysis using SIFT and Polyohen-2. Results: Among all the 12 members, four were clinically diagnosed with congenital aniridia. A novel heterozygous mutation c.275G>A (p.R92Q) in exon 6 of PAX6 was identified in all the patients, but not in the unaffected individuals or 1186 healthy subjects. This missense mutation is a G-A transition, converting Arginine (R) to Glutamine (Q) at amino acid 92. The substitution of amino acid in the PAX6 protein changed the local charge density and was predicted to damage the normal protein function. Conclusions: Our study identified a novel mutation of PAX6 responsible for congenital aniridia in a Chinese family, which may contribute to understanding the molecular basis and clinical diagnosis of congenital aniridia.
KeywordPAX6 gene congenital aniridia heterozygous mutation Sanger sequencing
DOI10.1089/gtmb.2018.0334
Indexed BySCI
WOS KeywordGENOTYPE-PHENOTYPE CORRELATIONS ; GENE
Language英语
Funding ProjectNatural Science Foundation of China[81670853] ; CAS Light of West China Program ; Department of Science and Technology of Sichuan Province, China[2019JDJQ0031] ; Department of Science and Technology of Sichuan Province, China[2016JY0082] ; Foundation for Technology and Science and Technology Bureau of Chengdu[2018-YF05-00348-SN] ; project of medical and health technology development program in Shandong province[2017WSB01063]
WOS Research AreaBiochemistry & Molecular Biology ; Genetics & Heredity
WOS SubjectBiochemistry & Molecular Biology ; Genetics & Heredity
WOS IDWOS:000475262900001
Funding OrganizationNatural Science Foundation of China ; CAS Light of West China Program ; Department of Science and Technology of Sichuan Province, China ; Foundation for Technology and Science and Technology Bureau of Chengdu ; project of medical and health technology development program in Shandong province
PublisherMARY ANN LIEBERT, INC
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Document Type期刊论文
Identifierhttp://ir.imde.ac.cn/handle/131551/26687
Collection中国科学院水利部成都山地灾害与环境研究所
Corresponding AuthorWang, Qi; Gong, Bo
Affiliation1.Shandong Univ, Shandong Prov Hosp, Dept Ophthalmol, Jinan 250021, Shandong, Peoples R China
2.Univ Elect Sci & Technol China, Key Lab Human Dis Gene Study Sichuan Prov, Chengdu, Sichuan, Peoples R China
3.Univ Elect Sci & Technol China, Dept Lab Med, Sichuan Acad Med Sci, Chengdu, Sichuan, Peoples R China
4.Univ Elect Sci & Technol China, Sch Med, Sichuan Prov Peoples Hosp, Chengdu, Sichuan, Peoples R China
5.Chinese Acad Sci, Inst Chengdu Biol, Sichuan Translat Med Hosp, Chengdu, Sichuan, Peoples R China
Recommended Citation
GB/T 7714
Xiao, Ying,Liu, Xiangqin,Yang, Chen,et al. A Novel PAX6 Heterozygous Mutation Found in a Chinese Family with Congenital Aniridia[J]. GENETIC TESTING AND MOLECULAR BIOMARKERS,2019,23(7):495-500.
APA Xiao, Ying.,Liu, Xiangqin.,Yang, Chen.,Liu, Liping.,Guo, Xiaoxin.,...&Gong, Bo.(2019).A Novel PAX6 Heterozygous Mutation Found in a Chinese Family with Congenital Aniridia.GENETIC TESTING AND MOLECULAR BIOMARKERS,23(7),495-500.
MLA Xiao, Ying,et al."A Novel PAX6 Heterozygous Mutation Found in a Chinese Family with Congenital Aniridia".GENETIC TESTING AND MOLECULAR BIOMARKERS 23.7(2019):495-500.
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