Abstract
Abstract Purpose Mapping and genome sharing among affected individuals continue to be important for establishing a link between a genomic variant and its phenotypic consequences. Several loci responsible for a familial form of keratoconus (KTCN) have been mapped, however; no mutations in any genes have been identified for any of these loci. Here we present further sequencing results of candidate keratoconus genes localized to 13q32 and 13q34 and accompanying linkage analyses performed in Ecuadorian families. Methods Genes were 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 were evaluated. Additional bioinformatics analyses were carried out based on the genomewide scan data obtained from 79 patients with keratoconus and 66 healthy family members. Results Sequencing of COL4A1 and COL4A2 genes at 13q34 have been completed. Several single nucleotide polymorphisms were identified in coding and non‐coding regions. Haplotype analysis in family KTCN‐014 at 13q32 revealed three sequence variants segregating with keratoconus phenotype. Bioinformatics analyses revealed distinct keratoconus loci in particular Ecuadorian families indicating complexity of genetics in familial keratoconus. Conclusion Our results show high complexity of genetics in familial keratoconus
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