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Myocilin gene implicated in primary congenital glaucoma

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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
PeerReviewed
 
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
http://www.eprints.iicb.res.in/366/