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Panicker, S.G. and Reddy, A.B.M. and Mandal, A.K. and Ahmed, N. and Nagarajaram, H.A. and Hasnain, S.E. and Balasubramanian, D. (2002) Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees. Investigative Ophthalmology & Visual Science, 43 (5). pp. 1358-66. ISSN 0146-0404

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Abstract

To determine the possible molecular genetic defect underlying primary congenital glaucoma (PCG) in India and to identify the pathogenic mutations causing this childhood blindness. Twenty-two members of five clinically well-characterized consanguineous families were studied. The primary candidate gene CYP1B1 was amplified from genomic DNA, sequenced, and analyzed in control subjects and patients to identify the disease-causing mutations. The molecular mechanism leading to the development of PCG is unknown. Because CYP1B1 knockout mice did not show a glaucoma phenotype, the functional knockout identified in this study has important implications in elucidating the pathogenesis of PCG. Further understanding of how this molecular defect leads to PCG could influence the development of specific therapies. This is the first study to describe the molecular basis of PCG from the Indian subcontinent and has profound and multiple clinical implications in diagnosis, genetic counseling, genotype-phenotype correlations and prognosis. Hence, it is a step forward in preventing this devastating childhood blindness.

Item Type: Article
Subjects: Genetics
Depositing User: Dr P Divakar
Date Deposited: 02 Jun 2015 10:36
Last Modified: 27 Jun 2016 09:58
URI: http://cdfd.sciencecentral.in/id/eprint/133

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