OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele
2005; BMJ; Volume: 43; Issue: 7 Linguagem: Inglês
10.1136/jmg.2005.038612
ISSN1468-6244
AutoresRenée Varga, Matthew R. Avenarius, Philip M. Kelley, Bronya J.B. Keats, Charles I. Berlín, Linda J. Hood, Thierry Morlet, Shanda Brashears, Arnold Starr, Edward Cohn, Richard J. Smith, W. J. Kimberling,
Tópico(s)Vestibular and auditory disorders
ResumoThe majority of hearing loss in children can be accounted for by genetic causes. Non-syndromic hearing loss accounts for 80% of genetic hearing loss in children, with mutations in DFNB1/GJB2 being by far the most common cause. Among the second tier genetic causes of hearing loss in children are mutations in the DFNB9/OTOF gene.
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