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Sequence Analysis of COL1A1 and COL1A2 Genes in Clinical Otosclerosis: No Evidence for Mutations in the Coding Regions of the Genes

Because of the clinical and histopathologic similarities between otosclerosis and type I osteogenesis imperfecta and prior evidence that some cases of clinical otosclerosis have reduced expression of one COL1A1 allele, we analyzed the COL1A1 and COL1A2 genes in 10 patients with clinical otosclerosis, including 2 patients with reduced or null expression of one COL1A1 allele. Conformation-sensitive gel electrophoresis of all exons and flanking sequences and the promoter sequences for each gene were performed. There were no mutations found in the coding or promoter sequence of either gene in any of the cases examined. One case with reduced allelic expression revealed evidence of a possible splicing mutation at intervening sequence intron 44+4. The second case of reduced allelic expression failed to demonstrate evidence for mutations in the coding or splice site regions of the COL1A1 gene, suggesting a different mechanism for reduced allelic expression than that which has been observed thus far in type I osteogenesis imperfecta.