May 2007
Volume 48, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2007
Exclusion of the Chromosome 1p36 Candidate Region for Schnyder Crystalline Corneal Dystrophy
Author Affiliations & Notes
  • Y. S. Oleynikov
    Ophthalmology, UCLA, Jules Stein Eye Institute, Los Angeles, California
  • V. S. Yellore
    Ophthalmology, UCLA, Jules Stein Eye Institute, Los Angeles, California
  • N. Bourla
    Ophthalmology, UCLA, Jules Stein Eye Institute, Los Angeles, California
  • M. Khan
    Ophthalmology, UCLA, Jules Stein Eye Institute, Los Angeles, California
  • S. A. Rayner
    Ophthalmology, UCLA, Jules Stein Eye Institute, Los Angeles, California
  • R. S. Momi
    Ophthalmology, UCLA, Jules Stein Eye Institute, Los Angeles, California
  • K. M. Sampat
    Ophthalmology, UCLA, Jules Stein Eye Institute, Los Angeles, California
  • V. Theendakara
    Ophthalmology, UCLA, Jules Stein Eye Institute, Los Angeles, California
  • A. J. Aldave
    Ophthalmology, UCLA, Jules Stein Eye Institute, Los Angeles, California
  • Footnotes
    Commercial Relationships Y.S. Oleynikov, None; V.S. Yellore, None; N. Bourla, None; M. Khan, None; S.A. Rayner, None; R.S. Momi, None; K.M. Sampat, None; V. Theendakara, None; A.J. Aldave, None.
  • Footnotes
    Support None.
Investigative Ophthalmology & Visual Science May 2007, Vol.48, 5878. doi:
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      Y. S. Oleynikov, V. S. Yellore, N. Bourla, M. Khan, S. A. Rayner, R. S. Momi, K. M. Sampat, V. Theendakara, A. J. Aldave; Exclusion of the Chromosome 1p36 Candidate Region for Schnyder Crystalline Corneal Dystrophy. Invest. Ophthalmol. Vis. Sci. 2007;48(13):5878.

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

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Abstract

Purpose:: To identify the genetic basis of Schnyder crystalline corneal dystrophy (SCCD) through screening of positional candidate genes in affected patients.

Methods:: Mutation screening of sixteen of the thirty-one genes that lie within the 2.32Mbp candidate gene region for SCCD on the short arm of chromosome 1 that have not been previously screened (APITD1, CA6, CASZ1, FLJ16126, FLJ27486, LOC148915, LOC199953, LOC642740, LOC644929, LOC644997, MFN2, NMNAT, RERE, SLC2A5, SLC2A7, UBE4B) was performed in two families affected with SCCD.

Results:: No presumed disease-causing mutations were identified in affected patients. Seventeen previously described single nucleotide polymorphisms (SNPs) were identified in eight of the candidate genes. Sixteen novel sequence variants were identified in five of the candidate genes, although each failed to segregate with the disease phenotype or was identified in control individuals.

Conclusions:: Screening of each known and predicted gene identified in the chromosome 1 candidate gene region for SCCD has failed to identify a presumed pathogenic mutation. Possible explanations include locus heterogeneity for SCCD, incomplete gene annotation for the candidate gene interval, the presence of pathogenic mutations outside of the coding region of a candidate gene, or an error in the assignment of the candidate locus for SCCD.

Keywords: cornea: stroma and keratocytes • cornea: clinical science • gene mapping 
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