Myocilin gene implicated in primary congenital glaucoma

Kaur, K. ; Reddy, A. B. M. ; Mukhopadhyay, A. ; Mandal, A. K. ; Hasnain, S. E. ; Ray, K. ; Thomas, R. ; Balasubramanian, D. ; Chakrabarti, S. (2005) Myocilin gene implicated in primary congenital glaucoma Clinical Genetics, 67 (4). pp. 335-340. ISSN 0009-9163

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Primary congenital glaucoma (PCG) has been associated with CYP1B1 gene (2p21), with a predominantly autosomal recessive mode of inheritance. Our earlier studies attributed CYP1B1 mutations to only 40% of Indian PCG cases. In this study, we included 72 such PCG cases where CYP1B1 mutations were detected in only 12 patients in heterozygous condition, implying involvement of other gene(s). On screening these patients for mutations in myocilin (MYOC), another glaucoma-associated gene, using denaturing high-performance liquid chromatography followed by sequencing, we identified a patient who was double heterozygous at CYP1B1 (c.1103G>A; Arg368His) and MYOC (c.144G>T; Gln48His) loci, suggesting a digenic mode of inheritance of PCG. In addition, we identified the same MYOC mutation, implicated for primary open angle glaucoma, in three additional PCG patients who did not harbor any mutation in CYP1B1. These observations suggest a possible role of MYOC in PCG, which might be mediated via digenic interaction with CYP1B1 and/or an yet unidentified locus associated with the disease.

Item Type:Article
Source:Copyright of this article belongs to John Wiley and Sons, Inc.
Keywords:Congenital Glaucoma; CYP1B1; Digenic Inheritance; Haplotype; Mutation; Myocilin
ID Code:1217
Deposited On:05 Oct 2010 12:44
Last Modified:13 May 2011 06:56

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