May 2003
Volume 44, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2003
Defining the Minimal Critical Region for the Peters Plus Syndrome
E.D. Silva; J.M. Yang; I.H. Maumenee; O.H. Sundin
Author Affiliations & Notes
  • E.D. Silva
    Dept of Ophthalmology, IBILI, Coimbra, Portugal
  • J.M. Yang
    Dept of Ophthalmology, Wilmer Eye Institute, Baltimore, MD, United States
  • I.H. Maumenee
    J.h.c.h.e.d., Wilmer Eye Institute, Baltimore, MD, United States
  • O.H. Sundin
    J.h.c.h.e.d., Wilmer Eye Institute, Baltimore, MD, United States
  • Footnotes
    Commercial Relationships  E.D. Silva, None; J.M. Yang, None; I.H. Maumenee, None; O.H. Sundin, None.
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 840. doi:
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      E.D. Silva, J.M. Yang, I.H. Maumenee, O.H. Sundin; Defining the Minimal Critical Region for the Peters Plus Syndrome . Invest. Ophthalmol. Vis. Sci. 2003;44(13):840.

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Abstract

Abstract: : Purpose: To define the MCR in a patient with the Peters plus syndrome carrying a de novo interstitial deletion of the short arm of chromosome 2 and search for candidate genes in this interval. Methods: We used GMP Conversion Technology to create stable hybrid cell lines that contained only one copy of chromosome 2 of our proband. We then used STS markers to determine the deletion interval and to characterize the deletion boundaries. Results: We narrowed the genetic interval to 4,9 Mb on 2p21-p22.2 and we have excluded both SIX3 and CYP1B1 as a potential candidates. Development of an integrated physical and genetic map of the interval identified 32 genes, some of which are expressed during eye development. Conclusions: We have defined one minimal critical region for the Peters plus syndrome. We are currently screening candidate genes that fall within this interval, in a panel of patients with this phenotype, hoping to further expand our knowledge of this complex anterior segment mesenchyme dysgenesis.

Keywords: anterior segment • candidate gene analysis • genetics 
© 2003, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2024 Association for Research in Vision and Ophthalmology.
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