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Nonsyndromic hearing impairment is associated with a mutation in DFNA5.
Van Laer L, Huizing EH, Verstreken M, van Zuijlen D, Wauters JG, Bossuyt PJ, Van de Heyning P, McGuirt WT, Smith RJ, Willems PJ, Legan PK, Richardson GP, Van Camp G. Van Laer L, et al. Among authors: richardson gp. Nat Genet. 1998 Oct;20(2):194-7. doi: 10.1038/2503. Nat Genet. 1998. PMID: 9771715
Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment.
Verhoeven K, Van Laer L, Kirschhofer K, Legan PK, Hughes DC, Schatteman I, Verstreken M, Van Hauwe P, Coucke P, Chen A, Smith RJ, Somers T, Offeciers FE, Van de Heyning P, Richardson GP, Wachtler F, Kimberling WJ, Willems PJ, Govaerts PJ, Van Camp G. Verhoeven K, et al. Among authors: richardson gp. Nat Genet. 1998 May;19(1):60-2. doi: 10.1038/ng0598-60. Nat Genet. 1998. PMID: 9590290
Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).
Zheng J, Miller KK, Yang T, Hildebrand MS, Shearer AE, DeLuca AP, Scheetz TE, Drummond J, Scherer SE, Legan PK, Goodyear RJ, Richardson GP, Cheatham MA, Smith RJ, Dallos P. Zheng J, et al. Among authors: richardson gp. Proc Natl Acad Sci U S A. 2011 Mar 8;108(10):4218-23. doi: 10.1073/pnas.1005842108. Epub 2011 Feb 22. Proc Natl Acad Sci U S A. 2011. PMID: 21368133 Free PMC article.
A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.
Walls WD, Moteki H, Thomas TR, Nishio SY, Yoshimura H, Iwasa Y, Frees KL, Nishimura CJ, Azaiez H, Booth KT, Marini RJ, Kolbe DL, Weaver AM, Schaefer AM, Wang K, Braun TA, Usami SI, Barr-Gillespie PG, Richardson GP, Smith RJ, Casavant TL. Walls WD, et al. Among authors: richardson gp. Hum Genet. 2020 Oct;139(10):1315-1323. doi: 10.1007/s00439-020-02174-y. Epub 2020 May 7. Hum Genet. 2020. PMID: 32382995 Free PMC article.
138 results