Two variants in MYOC and CYP1B1 genes in a Chinese family with primary angle-closure glaucoma / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To describe the clinical and genetic characteristics of a Chinese family with primary angle-closure glaucoma (PACG).</p><p><b>METHODS</b>Linkage analysis and DNA sequencing as well as single strand conformation polymorphism (SSCP) analysis were performed to identify the disease-causing mutations.</p><p><b>RESULTS</b>The 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.</p><p><b>CONCLUSION</b>Author 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.</p>