A novel MYO6 splice site mutation causes autosomal dominant sensorineural hearing loss type DFNA22 with a favourable outcome after cochlear implantation
Standard
A novel MYO6 splice site mutation causes autosomal dominant sensorineural hearing loss type DFNA22 with a favourable outcome after cochlear implantation. / Volk, Alexander; Lang-Roth, Ruth; Yigit, Goekhan; Borck, Guntram; Nuernberg, Gudrun; Rosenkranz, Stephan; Nuernberg, Peter; Kubisch, Christian; Beutner, Dirk.
in: AUDIOL NEURO-OTOL, Jahrgang 18, Nr. 3, 01.01.2013, S. 192-9.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
Harvard
APA
Vancouver
Bibtex
}
RIS
TY - JOUR
T1 - A novel MYO6 splice site mutation causes autosomal dominant sensorineural hearing loss type DFNA22 with a favourable outcome after cochlear implantation
AU - Volk, Alexander
AU - Lang-Roth, Ruth
AU - Yigit, Goekhan
AU - Borck, Guntram
AU - Nuernberg, Gudrun
AU - Rosenkranz, Stephan
AU - Nuernberg, Peter
AU - Kubisch, Christian
AU - Beutner, Dirk
N1 - Copyright © 2013 S. Karger AG, Basel.
PY - 2013/1/1
Y1 - 2013/1/1
N2 - 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.
AB - 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.
KW - Aged
KW - Cochlear Implantation
KW - Female
KW - Genetic Linkage
KW - Genotype
KW - Germany
KW - Haplotypes
KW - Hearing Loss, Sensorineural
KW - Humans
KW - Male
KW - Middle Aged
KW - Mutation
KW - Myosin Heavy Chains
KW - Pedigree
KW - RNA Splice Sites
KW - Treatment Outcome
U2 - 10.1159/000350246
DO - 10.1159/000350246
M3 - SCORING: Journal article
C2 - 23635807
VL - 18
SP - 192
EP - 199
JO - AUDIOL NEURO-OTOL
JF - AUDIOL NEURO-OTOL
SN - 1420-3030
IS - 3
ER -