Abstract
Hereditary nonsyndromic hearing loss (NSHL) is a highly heterogeneous disorder in humans. Mutations of the transmembrane channel-like (TMC1) gene have been identified as the genetic cause for both autosomal recessive (DFNB7/11) and autosomal dominant (DFNA36) nonsyndromic hearing loss. To evaluate the spectrum and frequency of mutation(s) caused by TMC1 gene in the Korean population, we have performed sequencing analysis of the PCR products amplified from genomic DNA of each proband in 193 unrelated families showing 30 autosomal dominant and 163 autosomal recessive inheritance patterns. As a result, we identified eight different novel sequence variations for the first time in this study, respectively. However, none of these showed co-segregation of phenotype in the families. Therefore, our study suggests that the TMC1 gene is not the cause of nonsyndromic hearing loss in the Korean population.
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