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Myocilin gene implicated in primary congenital glaucoma
Author(s) -
Kaur K,
Reddy ABM,
Mukhopadhyay A,
Mandal AK,
Hasnain SE,
Ray K,
Thomas R,
Balasubramanian D,
Chakrabarti S
Publication year - 2005
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2005.00411.x
Subject(s) - myocilin , cyp1b1 , genetics , biology , mutation , locus (genetics) , glaucoma , gene , gene mutation , compound heterozygosity , open angle glaucoma , cytochrome p450 , biochemistry , enzyme , neuroscience
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.