Present address: Department of Immunology, Childrens Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104.
Myocilin gene implicated in primary congenital glaucoma
Article first published online: 8 FEB 2005
Volume 67, Issue 4, pages 335–340, April 2005
How to Cite
Kaur, K., Reddy, A., Mukhopadhyay, A., Mandal, A., Hasnain, S., Ray, K., Thomas, R., Balasubramanian, D. and Chakrabarti, S. (2005), Myocilin gene implicated in primary congenital glaucoma. Clinical Genetics, 67: 335–340. doi: 10.1111/j.1399-0004.2005.00411.x
- Issue published online: 8 FEB 2005
- Article first published online: 8 FEB 2005
- Received 24 August 2004, revised and accepted for publication 7 December 2004
- congenital glaucoma;
- digenic inheritance;
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.