A Novel MYO6 Splice Site Mutation Causes Autosomal Dominant Sensorineural Hearing Loss Type DFNA22 with a Favourable Outcome after Cochlear Implantation

作者：Volk Alexander E^*; Lang Roth Ruth; Yigit Goekhan; Borck Guntram; Nuernberg Gudrun; Rosenkranz Stephan; Nuernberg Peter; Kubisch Christian; Beutner Dirk

来源：Audiology and Neuro-Otology, 2013, 18(3): 192-199.

DOI：10.1159/000350246

• Autosomal dominant hearing loss
• DFNA22
• Myosin VI
• Cochlear implantation

Mutations in MYO6 encoding an atypical myosin motor protein important for inner ear hair cell function have been associated with autosomal recessive (DFNB37) and autosomal dominant (DFNA22) types of hearing loss in a few families worldwide. After genome-wide linkage analysis, we identified a novel MYO6 mutation at the splice acceptor site of exon 7 (c.554-1G%26gt;A) in an extended German family with autosomal dominant postlingual non-syndromic hearing impairment. Analysis of blood-derived cDNA revealed different aberrantly spliced mRNAs caused by the mutation, which are predicted to severely interfere with protein function. Two of the family members underwent cochlear implantation at ages 53 and 65. Here, we present detailed clinical data of this family which suggest a favourable outcome of cochlear implantation in hearing-impaired individuals with a MYO6 mutation.

• 出版日期2013