May 2003
Volume 44, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2003
Identification of a Predominant cyp1b1 Gene Mutation in Indian Primary Congenital Glaucoma Patients - Implications for Genetic Testing
Author Affiliations & Notes
  • D. Balasubramanian
    Director of Research, L V Prasad Eye Institute, Hyderabad, India
  • A.B. Reddy
    L V Prasad Eye Institute, Hyderabad, India
  • S.G. Panicker
    L V Prasad Eye Institute, Hyderabad, India
  • A.K. Mandal
    L V Prasad Eye Institute, Hyderabad, India
  • S.E. Hasnain
    Centre for DNA Fingerprinting & Diagnostics, Hyderabad-500076, India
  • Footnotes
    Commercial Relationships  D. Balasubramanian, None; A.B.M. Reddy, None; S.G. Panicker, None; A.K. Mandal, None; S.E. Hasnain, None.
  • Footnotes
    Support  DBT, India
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 1116. doi:
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      D. Balasubramanian, A.B. Reddy, S.G. Panicker, A.K. Mandal, S.E. Hasnain; Identification of a Predominant cyp1b1 Gene Mutation in Indian Primary Congenital Glaucoma Patients - Implications for Genetic Testing . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1116.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Abstract: : Purpose: To investigate the predominant mutations in the CYP1B1 gene causing primary congenital glaucoma (PCG) in India and to develop a rapid screening stategy for genetic testing. Methods: The study cohort comprised 146 PCG patients from 138 pedigrees. PCR-RFLP screenings were performed for 6 distinct CYP1B1mutations and the respective mutations were confirmed by direct sequencing. Results: Direct sequencing of the entire coding region of CYP1B1 in a two-generation affected family revealed a novel compound heterozygous mutation, 1449 G →A (R368H) and 1514 C→T (R390C). 31% of patients screened scored positive for any one of the six mutations (376 ins A, 528G→ A, 923C→T, 959G→A, 1449G→A and 1514C→A) analysed. Interestingly, 18% patients had the rarely reported R368H (1449G→A) mutation and a few revealed de novo mutation. Conclusions: This study suggests extensive allelic and possible locus heterogeneities in Indian PCG patients. R368H was found to be the most predominat mutation among the tested 146 Indian patients. Indeed, among all the ethnic origins screened so far, this R368H mutation seems to occur in the highest frequency. It also indicates that the predominant mutation causing PCG varies with ethnic as well as geographical origins. The rapid diagnostic methods developed here aid in identifying potential carriers and affected individuals in afflicted families, and also in population screening. The strategies described here could be used as an added clinical tool in combating the unwanted visual loss associated with this devastatiing childhood blinding disorder.

Keywords: clinical (human) or epidemiologic studies: pre • genetics • mutations 
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