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Myocilin gene implicated in primary congenital glaucoma

IR@IICB: CSIR-Indian Institute of Chemical Biology, Kolkata

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Title Myocilin gene implicated in primary congenital glaucoma
Creator Kaur, K
Raeddy, ABM
Mukhopadhyay, A
Mondal, Amit Kumar
Hasnain, SE
Ray, Kunal
Thomasb, R
Balasubramaniana, D
Chakrabartia, S
Subject Molecular & Human Genetics
Description 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.
Publisher Blackwell Publishing
Date 2005
Type Article
Format application/pdf
Identifier http://www.eprints.iicb.res.in/366/1/CLINICAL_GENETICS__67(_4)__335%2D340;2005[73].pdf
Kaur, K and Raeddy, ABM and Mukhopadhyay, A and Mondal, Amit Kumar and Hasnain, SE and Ray, Kunal and Thomasb, R and Balasubramaniana, D and Chakrabartia, S (2005) Myocilin gene implicated in primary congenital glaucoma. Clinical Genetics, 67 (4). pp. 335-340.
Relation http://dx.doi.org/10.1111/j.1399-0004.2005.00411.x