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Cochlear Implants for DFNA17 Deafness
Author(s) -
Hildebrand Michael S.,
de Silva Michelle G.,
Gardner R. J. McKinlay,
Rose Elizabeth,
de Graaf Carolyn A.,
Bahlo Melanie,
Dahl HansHenrik M.
Publication year - 2006
Publication title -
the laryngoscope
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.181
H-Index - 148
eISSN - 1531-4995
pISSN - 0023-852X
DOI - 10.1097/01.mlg.0000242089.72880.f8
Subject(s) - medicine , missense mutation , sensorineural hearing loss , hearing loss , cochlear implantation , audiology , snp , genetics , mutation , single nucleotide polymorphism , gene , genotype , biology
Background: Nonsyndromic autosomal‐dominant, adult‐onset sensorineural hearing loss resulting from DFNA17 was described in a single American kindred in 1997, and the causative gene was subsequently identified as MYH9 . Objective: The objective of this study was to report clinical and genetic analyses of an Australian family with nonsyndromic adult‐onset sensorineural hearing loss. Methods: The clinical presentation of the family was detailed and identification of the causative gene was conducted by SNP genotyping and direct sequencing. Results: Sequence analysis of the MYH9 gene revealed the same missense mutation as in the original DFNA17 family. We are not aware of a link between the two kindreds, making the present one only the second DFNA17 family to be reported. Conclusions: One important point of clinical relevance is the excellent outcome with cochlear implants in the Australian family compared with a “poor” response in the American family. Thus, cochlear implants should be strongly considered for clinical management of patients with DFNA17 deafness.