Kurima et al. (2002) used positional cloning to identify the TMC1 gene (606706) as the site of mutations causing autosomal recessive deafness that maps to 9q13-q21.
Kitajiri et al. (2007) identified mutations in the TMC1 gene ... Kurima et al. (2002) used positional cloning to identify the TMC1 gene (606706) as the site of mutations causing autosomal recessive deafness that maps to 9q13-q21. Kitajiri et al. (2007) identified mutations in the TMC1 gene (see, e.g., 606706.0005; 606706.0006) in affected members of 10 Pakistani families with autosomal recessive DFNB7/11. They estimated that the R34X mutation (606706.0002) accounts for 1.8% of deafness in Pakistani families. Hilgert et al. (2008) identified mutations in the TMC1 gene in 7 Turkish families with DFNB7/11. Mutations were not identified in 6 families showing linkage to the region, suggesting that they had mutations outside the coding region of the TMC1 gene or that there is another deafness-causing gene in this region.