Two variants in MYOC and CYP1B1 genes in a Chinese family with primary angle-closure glaucoma.
- Author:
Xiaohua DAI
1
;
Shangwu NIE
;
Tie KE
;
Jianping LIU
;
Qing WANG
;
Mugen LIU
Author Information
- Publication Type:Journal Article
- MeSH: Aged; Alleles; Aryl Hydrocarbon Hydroxylases; genetics; Asian Continental Ancestry Group; genetics; Base Sequence; China; Cytochrome P-450 CYP1B1; Cytoskeletal Proteins; genetics; Eye Proteins; genetics; Female; Genotype; Glaucoma, Angle-Closure; genetics; Glycoproteins; genetics; Humans; Mutation; Pedigree; Phenotype; Polymorphism, Genetic
- From: Chinese Journal of Medical Genetics 2008;25(5):493-496
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo describe the clinical and genetic characteristics of a Chinese family with primary angle-closure glaucoma (PACG).
METHODSLinkage analysis and DNA sequencing as well as single strand conformation polymorphism (SSCP) analysis were performed to identify the disease-causing mutations.
RESULTSThe Arg46Stop mutation in MYOC gene and Leu432Val in CYP1B1 gene were identified in all patients. The digenic alterations have not been identified in any same Chinese control individuals.
CONCLUSIONAuthor identified digenic mutations, Arg46Stop in MYOC gene and Leu432Val in CYP1B1 gene, in a Chinese PACG family. Author's studies suggest a possible role of MYOC and CYP1B1 in the development of PACG and support the hypothesis that PAOG and PACG may have common origin across multiple glaucoma phenotypes.
