Deafness, Autosomal Dominant 15

Known as: DFNA15 
 
National Institutes of Health

Related topics

Related topics

2 relations
Autosomal dominant inheritance

Broader (1)

Sensorineural Hearing Loss (disorder)

Papers overview

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2017
2017
POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss
A variant in a transcription factor gene, POU4F3, is responsible for autosomal dominant nonsyndromic hereditary hearing loss… (More)
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2016
2016
A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss
POU4F3 gene encodes a transcription factor which plays an essential role in the maturation and maintenance of hair cells in… (More)
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2014
2014
Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss.
In 20% of cases, hereditary non-syndromic hearing loss has an autosomal dominant inheritance (ADNSHL). To date, more than 50 loci… (More)
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2013
2013
SNP Linkage Analysis and Whole Exome Sequencing Identify a Novel POU4F3 Mutation in Autosomal Dominant Late-Onset Nonsyndromic Hearing Loss (DFNA15)
Autosomal dominant non-syndromic hearing loss (AD-NSHL) is one of the most common genetic diseases in human and is well-known for… (More)
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2009
2009
Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3.
OBJECTIVES Cochleovestibular characteristics were investigated in a Dutch DFNA15 family with a novel POU4F3 mutation, L223P… (More)
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2009
2009
Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3.
Vestibular examination (electronystagmography with rotatory chair and caloric tests) was performed on 18 carriers and 1 phenocopy… (More)
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2008
2008
Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding.
In a Dutch pedigree suffering from autosomal dominant nonsyndromic hearing impairment (ADNSHI), linkage was found to the locus… (More)
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2007
2007
Identification and functional analysis of common sequence variants in the DFNA15 gene, Brn-3c.
A rare mutation in Brn-3c (Brn3.1, POU4F3) underlies adult onset hearing loss (DFNA15) and targeted deletion of this gene in mice… (More)
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2003
2003
The DFNA15 deafness mutation affects POU4F3 protein stability, localization, and transcriptional activity.
A mutation in the POU4F3 gene (BRN-3.1, BRN3C) is responsible for DFNA15 (MIM 602459), autosomal-dominant nonsyndromic hearing… (More)
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2000
2000
Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor.
OBJECTIVES To describe the detailed auditory phenotype of DFNA15, genetic hearing loss associated with a mutation in the POU4F3… (More)
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