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Abstract #12058 Published in IGR 7-1
Myocilin gene implicated in primary congenital glaucoma
Kaur K; Reddy ABM; Mukhopadhyay A; Mandal AK; Hasnain SE; Ray K; Thomas R; Balasubramanian D; Chakrabarti SClinical Genetics 2005; 67: 335-340
See also comment(s) by John Fingert •
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.
Dr. S. Chakrabarti, Brien Holden Eye Research Centre, L.V. Prasad Eye Institute, Road No. 2, Banjara Hills, Hyderabad, Andhra Pradesh 500034, India
Classification:
3.4.1 Linkage studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
