May 2007
Volume 48, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2007
Recurrent Myocilin Asn480Lys Glaucoma Causative Mutation Arises de novo in a Family of Andean Descent
Author Affiliations & Notes
  • R. A. Perez-Grossmann
    Glaucoma, Instituto de Glaucoma y Catarata, Miraflores, Lima, Peru
  • M. L. Guevara-Fujita
    Instituto de Genetica y Biologia Molecular, Facultad de Medicina, Universidad de San Martin de Porres, La Molina, Lima, Peru
  • A. Estrada-Cuzcano
    Instituto de Genetica y Biologia Molecular, Facultad de Medicina, Universidad de San Martin de Porres, La Molina, Lima, Peru
  • H. Pawar
    W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan
  • J. E. Richards
    W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan
  • R. Fujita
    Instituto de Genetica y Biologia Molecular, Facultad de Medicina, Universidad de San Martin de Porres, La Molina, Lima, Peru
  • Footnotes
    Commercial Relationships R.A. Perez-Grossmann, None; M.L. Guevara-Fujita, None; A. Estrada-Cuzcano, None; H. Pawar, None; J.E. Richards, None; R. Fujita, None.
  • Footnotes
    Support Consejo Nacional de Ciencia, Tecnologia e Innovación del Perú, Universidad de San Martin de Porres
Investigative Ophthalmology & Visual Science May 2007, Vol.48, 5591. doi:
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    • Get Citation

      R. A. Perez-Grossmann, M. L. Guevara-Fujita, A. Estrada-Cuzcano, H. Pawar, J. E. Richards, R. Fujita; Recurrent Myocilin Asn480Lys Glaucoma Causative Mutation Arises de novo in a Family of Andean Descent. Invest. Ophthalmol. Vis. Sci. 2007;48(13):5591.

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

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Abstract

Purpose:: To identify and characterise MYOC mutations in a group of 11 Primary Open Angle Glaucoma (POAG) families of South American native and admixed origins from Peru.

Methods:: Patients and relatives participated voluntarily after signing informed consent. Ophthalmic examination included open anterior-chamber angles, presence of glaucomatous optic disc changes, slit lamp, gonioscopy, intraocular pressure and pachymetry. DNA was obtained from 5 ml of peripheral blood, MYOC exons were amplified and analysed under "conformational sensitive gel electrophoresis" (CSGE) and sequenced to detect and identify mutations.

Results:: Two mutations were found. In a family of admixed Andean, Caucasian and probably African descent, a common known polymorphism MYOC Arg76Lys (R76K) cosegregated with POAG in 6 out of the 7 POAG patients but also present in 6 normal relatives. Another family of native Andean descent presented a MYOC mutation Asn480Lys (N480K), previously reported to be causative in two unrelated French and Dutch familiar groups with glaucoma of variable expressivity (nucleotide 1440 C→A). The Peruvian N480K mutation is caused by a different transversion (nucleotide 1440 C→G), revealing a third, independent event. N480K is the mutation reported in the highest number of POAG patients (> 90 cases) and has been proposed as a model to study a common mutation with variable phenotypic presentation to study other modulating environmental and genetic factors for expressivity.

Conclusions:: A screening of MYOC mutations of 11 POAG families revealed an independent nucleotide mutation 1440 C→G in an Andean family that lead to N480K aminoacid change, the most common causal mutation reported for POAG. Follow-up of the evolution of POAG in this Andean family and comparison with European N480K, will contribute to the information about disease manifestation, progression and treatment response in the context of a distinct ethnic background as well as climatic, altitude and socioeconomical conditions.

Keywords: genetics • gene screening • gene mapping 
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