May 2003
Volume 44, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2003
GUCY2D Gene Mutations in CORD5 Families and Evidence of Incomplete Penetrance
Author Affiliations & Notes
  • N.S. Udar
    Jules Stein Eye Inst, UCLA Sch of Medicine, Los Angeles, CA, United States
  • S. Yelchits
    Jules Stein Eye Inst, UCLA Sch of Medicine, Los Angeles, CA, United States
  • M. Chalukya
    Jules Stein Eye Inst, UCLA Sch of Medicine, Los Angeles, CA, United States
  • V. Yellore
    Jules Stein Eye Inst, UCLA Sch of Medicine, Los Angeles, CA, United States
  • S. Nusinowitz
    Jules Stein Eye Inst, UCLA Sch of Medicine, Los Angeles, CA, United States
  • S. Rosamaria
    Jules Stein Eye Inst, UCLA Sch of Medicine, Los Angeles, CA, United States
  • T. Vrabec
    Wills Eye Hospital, Henry and Corinne Bower Laboratory, Philadelphia, PA, United States
  • I. Maumenee
    Ophthalmology, Wilmer Eye Hospital, Johns Hopkins University, Baltimore, MD, United States
  • D. Larry
    Ophthalmology, Wilmer Eye Hospital, Johns Hopkins University, Baltimore, MD, United States
  • K.W. Small
    Ophthalmology, Wilmer Eye Hospital, Johns Hopkins University, Baltimore, MD, United States
  • Footnotes
    Commercial Relationships  N.S. Udar, None; S. Yelchits, None; M. Chalukya, None; V. Yellore, None; S. Nusinowitz, None; S. Rosamaria, None; T. Vrabec, None; I. Maumenee, None; D. Larry, None; K.W. Small, None.
  • Footnotes
    Support  Foundation Fighting Blindness and McCone Foundation.
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 1470. doi:
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      N.S. Udar, S. Yelchits, M. Chalukya, V. Yellore, S. Nusinowitz, S. Rosamaria, T. Vrabec, I. Maumenee, D. Larry, K.W. Small; GUCY2D Gene Mutations in CORD5 Families and Evidence of Incomplete Penetrance . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1470.

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

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Abstract

Abstract: : Purpose: Positional Cloning of the gene for CORD5 Methods: Recombinant Analysis and Candidate gene Screening Results: The locus for CORD5 an autosomal dominant retinal disease that primarily affects cone function has previously been mapped to human chromosome 17p12-13. One of our "unaffected" recombinant individual from family 1175 was found to cross through the interval between markers D17S926/D17S849 and D17S945/D17S804. Reexamination revealed that he was in fact mildly affected. This expanded the minimum candidate region. Using direct sequencing of the GUCY2D and other candidate genes within this interval, we screened 2 American families affected with CORD5. We identified a R838C missense mutation within the GUCY2D gene in one and a R838H missense mutation in another families. The previously reported mutations for CORD6 are clustered at the same position within this gene. Conclusions: We conclude that GUCY2D mutations cause CORD5, both CORD5 and CORD6 are actually the same disease and significant variability in expression and incomplete penetrance exists even within one family.

Keywords: positional cloning • retinal degenerations: hereditary 
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