A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14–21

The Institutional Review Boards of the University of Michigan Medical School, Louisiana State University Health Sciences Center, and the University of California at Irvine approved the study, and informed consent was obtained from all subjects. Numerous candidate genes of interest map to the AUNA1 i...

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Published inJournal of medical genetics Vol. 41; no. 11; pp. 872 - 876
Main Authors Kim, T B, Isaacson, B, Sivakumaran, T A, Starr, A, Keats, B J B, Lesperance, M M
Format Journal Article
LanguageEnglish
Published England BMJ Publishing Group Ltd 01.11.2004
BMJ Publishing Group LTD
BMJ Group
Subjects
ABR
Adolescent
Adult
Age
Age of Onset
auditory brainstem responses
auditory neuropathy
AUNA1
Center for Inherited Disease Research
Child
Chromosome Mapping
Chromosomes, Human, Pair 13
CIDR
CMs
cochlear microphonics
Colleges & universities
ENU
Families & family life
Female
gene localisation
Genes
genetic
Genomes
Haplotypes
Hearing loss
Hearing Loss - epidemiology
Hearing Loss - genetics
Hearing protection
Humans
Letter to JMG
Lod Score
Male
Middle Aged
Mutation
N-ethyl-N-nitrosurea
OAEs
OHC
otoacoustic emissions
outer hair cell
sensorineural hearing loss
SNHL
Wolfram syndrome
United States > US
Online AccessGet full text
ISSN0022-2593
1468-6244
1468-6244
DOI10.1136/jmg.2004.020628

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Abstract The Institutional Review Boards of the University of Michigan Medical School, Louisiana State University Health Sciences Center, and the University of California at Irvine approved the study, and informed consent was obtained from all subjects. Numerous candidate genes of interest map to the AUNA1 interval (UCSC Genome Browser: http://genome.ucsc.edu ) including diaphanous homolog 3 (DIAPH3), several protocadherins (PCDH9 (MIM 603581), PCDH8 (MIM 603580), PCDH17, and PCHD20), and genes implicated in protein and/or ion transport (WD repeat and FYVE domain containing 2 (WDFY2) and potassium channel regulator gene, KCNRG (MIM 607947)).
AbstractList The Institutional Review Boards of the University of Michigan Medical School, Louisiana State University Health Sciences Center, and the University of California at Irvine approved the study, and informed consent was obtained from all subjects. Numerous candidate genes of interest map to the AUNA1 interval (UCSC Genome Browser: http://genome.ucsc.edu ) including diaphanous homolog 3 (DIAPH3), several protocadherins (PCDH9 (MIM 603581), PCDH8 (MIM 603580), PCDH17, and PCHD20), and genes implicated in protein and/or ion transport (WD repeat and FYVE domain containing 2 (WDFY2) and potassium channel regulator gene, KCNRG (MIM 607947)).
Author Lesperance, M M
Starr, A
Kim, T B
Isaacson, B
Keats, B J B
Sivakumaran, T A
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Correspondence to:
 Dr Marci M Lesperance
 Division of Pediatric Otolaryngology, Department of Otolaryngology-Head and Neck Surgery, F6905 Mott, Box 0241, 1500 East Medical Center Drive, Ann Arbor, MI 48109-0241, USA; lesperan@umich.edu
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  start-page: 1
  year: 1999
  ident: 2025100520403211000_41.11.872.18
  publication-title: Scand Audiol Suppl
– ident: 2025100520403211000_41.11.872.5
  doi: 10.1136/jmg.40.1.45
– ident: 2025100520403211000_41.11.872.19
  doi: 10.1007/s101620020017
– ident: 2025100520403211000_41.11.872.2
  doi: 10.1002/ana.410050506
– ident: 2025100520403211000_41.11.872.28
  doi: 10.1093/hmg/10.22.2509
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SubjectTerms ABR
Adolescent
Adult
Age
Age of Onset
auditory brainstem responses
auditory neuropathy
AUNA1
Center for Inherited Disease Research
Child
Chromosome Mapping
Chromosomes, Human, Pair 13
CIDR
CMs
cochlear microphonics
Colleges & universities
ENU
Families & family life
Female
gene localisation
Genes
genetic
Genomes
Haplotypes
Hearing loss
Hearing Loss - epidemiology
Hearing Loss - genetics
Hearing protection
Humans
Letter to JMG
Lod Score
Male
Middle Aged
Mutation
N-ethyl-N-nitrosurea
OAEs
OHC
otoacoustic emissions
outer hair cell
sensorineural hearing loss
SNHL
Wolfram syndrome
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Title A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14–21
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