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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
Reddy , ABM
Mukhopadhyay, A
Mandal , AK
Hasnain, SE
Ray , K
Thomas , R
Balasubramanian , D
Chakrabarti , 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
PeerReviewed
 
Format application/pdf
 
Identifier http://www.eprints.iicb.res.in/511/1/CLINICAL_GENETICS_67(_4)_335%2D340;2005[73].pdf
Kaur , K and Reddy , ABM and Mukhopadhyay, A and Mandal , AK and Hasnain, SE and Ray , K and Thomas , R and Balasubramanian , D and Chakrabarti , 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
http://www.eprints.iicb.res.in/511/