Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes
sequencing large numbers of genes, which often yields a significant number of novel …

While cochlear implantation (CI) technology has greatly improved over the past 40 years,
one aspect of CI that continues to pose difficulties is the variability of outcomes due to …

Abstract DeaFNess Autosomal Dominant 9 (DFNA9) is a dominant hereditary non-
syndromic form of progressive sensorineural hearing loss often associated with vestibular …

Seven missense mutations and one in-frame deletion mutation have been reported in the co
agulation factor C h omology (COCH) gene, causing the adult-onset, progressive …

Mutations in COCH (co agulation factor C h omology) cause autosomal‐dominant
nonsyndromic hearing loss with variable degrees of clinical onset and vestibular …

Deafness is an etiologically heterogeneous trait with many known genetic, environmental
causes or a combination thereof. The identification of more than 120 independent genes for …

Pathogenic missense variants in COCH are associated with DFNA9, an autosomal
dominantly inherited type of progressive sensorineural hearing loss with or without …

Recent advances in molecular genetic testing (MGT) have improved identification of genetic
aetiology of candidates for cochlear implantation (CI). However, whether genetic information …

The prevalence of significant hearing loss (≥ 25 db HL) is 15-20% in young adults and rises
to approximately 50% in individuals 80 years of age or older [Morton 1991]. Autosomal …

Mutations within the COCH gene (encoding the cochlin protein) lead to auditory and
vestibular impairment in the DFNA9 disorder. In this study, we describe the genetic mapping …