title: A novel MYO6 splice site mutation causes autosomal dominant sensorineural hearing loss type DFNA22 with a favourable outcome after cochlear implantation.
abstract: 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>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.
authors: Institute of Human Genetics, University of Ulm, Ulm, Germany. alexander.volk@uni-ulm.de
authors: Alexander E
authors: AE
authors: Volk
authors: Ruth
authors: R
authors: Lang-Roth
authors: Goekhan
authors: G
authors: Yigit
authors: Guntram
authors: G
authors: Borck
authors: Gudrun
authors: G
authors: Nuernberg
authors: Stephan
authors: S
authors: Rosenkranz
authors: Peter
authors: P
authors: Nuernberg
authors: Christian
authors: C
authors: Kubisch
authors: Dirk
authors: D
authors: Beutner
mesh_terms: D000368:Aged; D019929:Cochlear Implantation; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D005858:Germany; D006239:Haplotypes; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000601:surgery; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D010375:Pedigree; D022821:RNA Splice Sites; D016896:Treatment Outcome
chemical_list: D022821:RNA Splice Sites; C089785:myosin VI; D018995:Myosin Heavy Chains