Sirmaci et al. (2009) reported multiple Turkish families with autosomal recessive DFNB6 confirmed by genetic analysis. The phenotype consisted of congenital/prelingual onset of severe to profound sensorineural hearing loss without other features and without inner ear anomalies.
The TMIE gene (607237), located in the DFNB6 interval, is the human homolog of the mouse gene, Tmie, mutant in the 'spinner' phenotype (Mitchem et al., 2002). Therefore, Naz et al. (2002) performed a mutation screen of TMIE ... The TMIE gene (607237), located in the DFNB6 interval, is the human homolog of the mouse gene, Tmie, mutant in the 'spinner' phenotype (Mitchem et al., 2002). Therefore, Naz et al. (2002) performed a mutation screen of TMIE in affected individuals in families demonstrating linkage to the DFNB6 region. Five different homozygous recessive mutations (607237.0001-607237.0005) were identified in members of consanguineous families.
Sirmaci et al. (2009) found that the R84W mutation (607237.0003) was the most common mutation in the TMIE gene among Turkish families with autosomal recessive deafness. The frequency of the R84W mutation among families throughout Turkey with hearing ... Sirmaci et al. (2009) found that the R84W mutation (607237.0003) was the most common mutation in the TMIE gene among Turkish families with autosomal recessive deafness. The frequency of the R84W mutation among families throughout Turkey with hearing loss who did not have GJB2 (121011) mutations was 3.1%, but increased to 12.2% in southeastern Anatolia. Haplotype analysis indicated that R84W was a founder mutation arising from a common ancestor approximately 1,250 years ago.