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References

These sources were used to develop the Genetics Home Reference gene summary on the COCH gene.

Entrez Gene
Finsterer J, Fellinger J. Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing. Int J Pediatr Otorhinolaryngol. 2005 May;69(5):621-47. Review. PubMed citation
Friedman TB, Griffith AJ. Human nonsyndromic sensorineural deafness. Annu Rev Genomics Hum Genet. 2003;4:341-402. Review. PubMed citation
Grabski R, Szul T, Sasaki T, Timpl R, Mayne R, Hicks B, Sztul E. Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin. Hum Genet. 2003 Oct;113(5):406-16. Epub 2003 Aug 20. PubMed citation
Ikezono T, Shindo S, Li L, Omori A, Ichinose S, Watanabe A, Kobayashi T, Pawankar R, Yagi T. Identification of a novel Cochlin isoform in the perilymph: insights to Cochlin function and the pathogenesis of DFNA9. Biochem Biophys Res Commun. 2004 Feb 6;314(2):440-6. PubMed citation
Nagy I, Horváth M, Trexler M, Répássy G, Patthy L. A novel COCH mutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing loss. J Med Genet. 2004 Jan;41(1):e9. PubMed citation
Robertson NG, Cremers CW, Huygen PL, Ikezono T, Krastins B, Kremer H, Kuo SF, Liberman MC, Merchant SN, Miller CE, Nadol JB Jr, Sarracino DA, Verhagen WI, Morton CC. Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction. Hum Mol Genet. 2006 Apr 1;15(7):1071-85. Epub 2006 Feb 15. PubMed citation
Robertson NG, Hamaker SA, Patriub V, Aster JC, Morton CC. Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9. J Med Genet. 2003 Jul;40(7):479-86. PubMed citation
Street VA, Kallman JC, Robertson NG, Kuo SF, Morton CC, Phillips JO. 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. Am J Med Genet A. 2005 Dec 1;139A(2):86-95. PubMed citation


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