Purchase this article with an account.
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.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
To identify the genetic basis of Schnyder crystalline corneal dystrophy (SCCD) through screening of positional candidate genes in affected patients.
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.
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.
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.
This PDF is available to Subscribers Only