Sirmaci et al. (2010) reported a consanguineous Turkish family with nonsyndromic progressive hearing loss. Although the precise age of onset could not be ascertained, the youngest affected individual, who was 23 years old, reported loss of hearing after ... Sirmaci et al. (2010) reported a consanguineous Turkish family with nonsyndromic progressive hearing loss. Although the precise age of onset could not be ascertained, the youngest affected individual, who was 23 years old, reported loss of hearing after age 20. The hearing loss was progressive and age-dependent, consistent with a loss of function of an intracellular protease inhibitor. There were no other features, and vestibular function was normal.
By genomewide linkage analysis followed by candidate gene sequencing in affected members of a consanguineous Turkish family with nonsyndromic progressive hearing loss, Sirmaci et al. (2010) identified a homozygous truncating mutation in the SERPINB6 gene (E245X; 173321.0001), resulting ... By genomewide linkage analysis followed by candidate gene sequencing in affected members of a consanguineous Turkish family with nonsyndromic progressive hearing loss, Sirmaci et al. (2010) identified a homozygous truncating mutation in the SERPINB6 gene (E245X; 173321.0001), resulting in a loss of function. Mutation in the SERPINB6 gene was not found in 542 Turkish, Greek, American, and Palestinian families mostly with congenital hearing loss, suggesting that SERPINB6 mutations are not a common cause of early hearing loss. Sirmaci et al. (2010) demonstrated that in mouse embryos Serpinb6 is expressed in the inner ear during development. Sirmaci et al. (2010) concluded that SERPINB6 plays an important role in the inner ear in the protection against leakage of lysosomal content during stress, and that loss of this protection results in cell death and sensorineural hearing loss.