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A novel MYO6 splice site mutation causes autosomal dominant sensorineural hearing loss type DFNA22 with a favourable outcome after cochlear implantation

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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, Vol. 18, No. 3, 01.01.2013, p. 192-9.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Volk, A, Lang-Roth, R, Yigit, G, Borck, G, Nuernberg, G, Rosenkranz, S, Nuernberg, P, Kubisch, C & Beutner, D 2013, 'A novel MYO6 splice site mutation causes autosomal dominant sensorineural hearing loss type DFNA22 with a favourable outcome after cochlear implantation', AUDIOL NEURO-OTOL, vol. 18, no. 3, pp. 192-9. https://doi.org/10.1159/000350246

APA

Volk, A., Lang-Roth, R., Yigit, G., Borck, G., Nuernberg, G., Rosenkranz, S., Nuernberg, P., Kubisch, C., & Beutner, D. (2013). A novel MYO6 splice site mutation causes autosomal dominant sensorineural hearing loss type DFNA22 with a favourable outcome after cochlear implantation. AUDIOL NEURO-OTOL, 18(3), 192-9. https://doi.org/10.1159/000350246

Vancouver

Volk A, Lang-Roth R, Yigit G, Borck G, Nuernberg G, Rosenkranz S et al. A novel MYO6 splice site mutation causes autosomal dominant sensorineural hearing loss type DFNA22 with a favourable outcome after cochlear implantation. AUDIOL NEURO-OTOL. 2013 Jan 1;18(3):192-9. https://doi.org/10.1159/000350246

Bibtex

@article{c6935a1b43944372a00db26fc493e5ec,
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.",
keywords = "Aged, Cochlear Implantation, Female, Genetic Linkage, Genotype, Germany, Haplotypes, Hearing Loss, Sensorineural, Humans, Male, Middle Aged, Mutation, Myosin Heavy Chains, Pedigree, RNA Splice Sites, Treatment Outcome",
author = "Alexander Volk and Ruth Lang-Roth and Goekhan Yigit and Guntram Borck and Gudrun Nuernberg and Stephan Rosenkranz and Peter Nuernberg and Christian Kubisch and Dirk Beutner",
note = "Copyright {\textcopyright} 2013 S. Karger AG, Basel.",
year = "2013",
month = jan,
day = "1",
doi = "10.1159/000350246",
language = "English",
volume = "18",
pages = "192--9",
journal = "AUDIOL NEURO-OTOL",
issn = "1420-3030",
publisher = "S. Karger AG",
number = "3",

}

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 -