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Gene Review

COCH  -  cochlin

Homo sapiens

Synonyms: COCH-5B2, COCH5B2, Cochlin, DFNA9, UNQ257/PRO294
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Disease relevance of COCH

  • High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene [1].
  • In this study, using a Japanese population, we performed a COCH mutation analysis in 23 patients from independent families with autosomal dominant hearing impairment, four of whom reported vestibular symptoms, and also in 20 Meniere's patients [2].
  • Prevalence of COCH mutations worldwide is unknown, as there is no systematic screening effort for late-onset hearing disorders; however, to date, COCH mutations have been found on four continents and the possibility of COCH playing an important role in presbycusis and disorders of imbalance has been considered [3].
  • OBJECTIVE: To evaluate audiometric and vestibular signs and symptoms in a new DFNA9 family [4].
  • Characteristic eosinophilic deposits in DFNA9 affected inner ear structures could be the result of aberrant folding, secretion, or solubility of mutated cochlins, as in certain other pathological states in which misfolded proteins accumulate and aggregate causing toxicity [5].

High impact information on COCH

  • COCH message, found at high levels in human cochlear and vestibular organs, occurs in the chicken inner ear in the regions of the auditory and vestibular nerve fibres, the neural and abneural limbs adjacent to the cochlear sensory epithelium and the stroma of the crista ampullaris of the vestibular labyrinth [6].
  • These areas correspond to human inner ear structures which show histopathological findings of acidophilic ground substance in DFNA9 patients [6].
  • DFNA9 is an autosomal dominant, nonsyndromic, progressive sensorineural hearing loss with vestibular pathology [6].
  • Here we report three missense mutations in human COCH (previously described as Coch5b2), a novel cochlear gene, in three unrelated kindreds with DFNA9 [6].
  • All three residues mutated in DFNA9 are conserved in mouse and chicken Coch, and are found in a region containing four conserved cysteines with homology to a domain in factor C, a lipopolysaccharide-binding coagulation factor in Limulus polyphemus [6].

Chemical compound and disease context of COCH

  • A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction [7].

Biological context of COCH


Anatomical context of COCH

  • The fibrocytes expressing mRNA and protein products of COCH are the very cell types which are either absent or markedly reduced and replaced by eosinophilic acellular material in temporal bone sections of individuals affected with DFNA9 [8].
  • By in situ hybridization of mouse and human inner ear sections, we find high-level expression of COCH mRNA in the fibrocytes of the spiral limbus and of the spiral ligament in the cochlea, and in the fibrocytes of the connective tissue stroma underlying the sensory epithelium of the crista ampullaris of the semicircular canals [8].
  • METHODS: History, examination, and audiometric testing in the proband, brother, and son; quantitative rotational testing in the proband and son; histopathology of the cochlea and vestibular labyrinth in the proband; sequencing candidate genes COCH and MYO7A in the brother and son [11].
  • In the vestibular system, a progressive horizontal canal hypofunction and a probable saccular otolith challenge were detected in family members with the c.1625G > T COCH alteration [7].
  • Southern blot analysis of RT-PCR products detected a high level of COCH mRNA in the inner ear, lower level in spleen, and very low levels in the cerebrum, cerebellum/brain stem, eye, liver and kidney [12].

Associations of COCH with chemical compounds


Other interactions of COCH


Analytical, diagnostic and therapeutic context of COCH


  1. High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene. Fransen, E., Verstreken, M., Verhagen, W.I., Wuyts, F.L., Huygen, P.L., D'Haese, P., Robertson, N.G., Morton, C.C., McGuirt, W.T., Smith, R.J., Declau, F., Van de Heyning, P.H., Van Camp, G. Hum. Mol. Genet. (1999) [Pubmed]
  2. Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease. Usami, S., Takahashi, K., Yuge, I., Ohtsuka, A., Namba, A., Abe, S., Fransen, E., Patthy, L., Otting, G., Van Camp, G. Eur. J. Hum. Genet. (2003) [Pubmed]
  3. Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction. Robertson, N.G., Cremers, C.W., Huygen, P.L., Ikezono, T., Krastins, B., Kremer, H., Kuo, S.F., Liberman, M.C., Merchant, S.N., Miller, C.E., Nadol, J.B., Sarracino, D.A., Verhagen, W.I., Morton, C.C. Hum. Mol. Genet. (2006) [Pubmed]
  4. Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH): longitudinal analyses in a belgian family. Lemaire, F.X., Feenstra, L., Huygen, P.L., Fransen, E., Devriendt, K., Van Camp, G., Vantrappen, G., Cremers, C.W., Wackym, P.A., Koss, J.C. Otol. Neurotol. (2003) [Pubmed]
  5. Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9. Robertson, N.G., Hamaker, S.A., Patriub, V., Aster, J.C., Morton, C.C. J. Med. Genet. (2003) [Pubmed]
  6. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. Robertson, N.G., Lu, L., Heller, S., Merchant, S.N., Eavey, R.D., McKenna, M., Nadol, J.B., Miyamoto, R.T., Linthicum, F.H., Lubianca Neto, J.F., Hudspeth, A.J., Seidman, C.E., Morton, C.C., Seidman, J.G. Nat. Genet. (1998) [Pubmed]
  7. A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction. Street, V.A., Kallman, J.C., Robertson, N.G., Kuo, S.F., Morton, C.C., Phillips, J.O. Am. J. Med. Genet. A (2005) [Pubmed]
  8. Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9. Robertson, N.G., Resendes, B.L., Lin, J.S., Lee, C., Aster, J.C., Adams, J.C., Morton, C.C. Hum. Mol. Genet. (2001) [Pubmed]
  9. A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. de Kok, Y.J., Bom, S.J., Brunt, T.M., Kemperman, M.H., van Beusekom, E., van der Velde-Visser, S.D., Robertson, N.G., Morton, C.C., Huygen, P.L., Verhagen, W.I., Brunner, H.G., Cremers, C.W., Cremers, F.P. Hum. Mol. Genet. (1999) [Pubmed]
  10. Familial progressive vestibulocochlear dysfunction caused by a COCH mutation (DFNA9). Verhagen, W.I., Bom, S.J., Huygen, P.L., Fransen, E., Van Camp, G., Cremers, C.W. Arch. Neurol. (2000) [Pubmed]
  11. Temporal bone histopathology in dominantly inherited audiovestibular syndrome. Ishiyama, A., Ishiyama, G., Lopez, I., Jen, J., Kim, G., Baloh, R.W. Neurology (2004) [Pubmed]
  12. Expression of full-length Cochlin p63s is inner ear specific. Li, L., Ikezono, T., Watanabe, A., Shindo, S., Pawankar, R., Yagi, T. Auris, nasus, larynx. (2005) [Pubmed]
  13. Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families. Kamarinos, M., McGill, J., Lynch, M., Dahl, H. Hum. Mutat. (2001) [Pubmed]
  14. A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment. Kemperman, M.H., De Leenheer, E.M., Huygen, P.L., van Wijk, E., van Duijnhoven, G., Cremers, F.P., Kremer, H., Cremers, C.W. Arch. Otolaryngol. Head Neck Surg. (2004) [Pubmed]
  15. Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. Robertson, N.G., Khetarpal, U., Gutiérrez-Espeleta, G.A., Bieber, F.R., Morton, C.C. Genomics (1994) [Pubmed]
  16. Gene expression profiling of the human prostate zones. van der Heul-Nieuwenhuijsen, L., Hendriksen, P.J., van der Kwast, T.H., Jenster, G. BJU Int. (2006) [Pubmed]
  17. Absence of COCH mutations in patients with Meniere disease. Sanchez, E., López-Escámez, J.A., López-Nevot, M.A., López-Nevot, A., Cortes, R., Martin, J. Eur. J. Hum. Genet. (2004) [Pubmed]
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