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Gene screening at the 13q32 keratoconus locus
Author(s) -
GAJECKA M
Publication year - 2009
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2009.2244.x
Subject(s) - genetics , biology , candidate gene , gene , locus (genetics) , keratoconus , phenotype , exon , single nucleotide polymorphism , cornea , genotype , neuroscience
Purpose Keratoconus (KTCN) is a non‐inflammatory thinning and anterior protrusion of the cornea that results in steepening and distortion of the cornea, altered refractive powers, and altered visual acuity. We ascertained eighteen autosomal dominant multigenerational KTCN families from Ecuador and identified a novel locus on 13q32.1‐q32.3 in the large family KTCN‐014. Here we present sequencing results of candidate keratoconus genes localized to 13q32. Methods The keratoconus locus contains 23 known transcripts. Sixteen of the genes were chosen for the evaluation. Genes are screened by standard techniques using 48 genomic DNA samples from individuals from family KTCN‐014 and selected affected and unaffected individuals from other Ecuadorian families. Coding exons and intron‐exon boundaries of the genes are evaluated. Results Sequencing analysis of genes MBNL2, FARP1, ZIC5, ZIC2, FGF14, EFNB2, RNF113B, DOCK9, PHGDHL1, VGCNL1, ERCG5 and ING1 have not revealed mutations segregated with the disease phenotype. Several novel single nucleotide polymorphisms were identified. Other candidate genes on 13q32.1‐q32.3 including COL4A1 and COL4A2 are currently being screened for a possible role in the pathogenesis of KTCN. Conclusion To date, mutation analyses of candidate genes have not identified sequence alterations segregating with the keratoconus phenotype in this population.