|
Progressive hearing loss stapes fixation
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
There are rare case reports of DFNX2 patients with chromosomal rearrangements positioned centromeric to POU3F4 and no mutations within the gene.
|
24096866 |
2014 |
|
Progressive hearing loss stapes fixation
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice.
|
23606368 |
2013 |
|
Progressive hearing loss stapes fixation
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Multiple deletions affecting up to ~900-kb upstream of POU3F4 are found in DFN3 patients, suggesting the presence of essential POU3F4 enhancers in this region.
|
20668882 |
2010 |
|
Progressive hearing loss stapes fixation
|
0.750 |
Biomarker
|
disease |
BEFREE |
Since most of the mutations reported for DFN3 thus far are associated with regions that encode the DNA binding domains of POU3F4, our results strongly suggest that the deafness in DFN3 patients is largely due to the null function of POU3F4.
|
19671658 |
2009 |
|
Progressive hearing loss stapes fixation
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3).
|
9778298 |
1998 |
|
Progressive hearing loss stapes fixation
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3).
|
9778298 |
1998 |
|
Progressive hearing loss stapes fixation
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation.
|
9298820 |
1997 |
|
Progressive hearing loss stapes fixation
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation.
|
9298820 |
1997 |
|
Progressive hearing loss stapes fixation
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.
|
7581392 |
1995 |
|
Progressive hearing loss stapes fixation
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.
|
7839145 |
1995 |
|
Progressive hearing loss stapes fixation
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Since at least two DFN3-associated minideletions are situated proximal to the duplicated segment, the inversion most likely disconnects the POU3F4 gene from a regulatory element which is located at a distance of at least 400 kb upstream of the POU3F4 gene.
|
8589693 |
1995 |
|
Progressive hearing loss stapes fixation
|
0.750 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
hearing impairment
|
0.420 |
Biomarker
|
phenotype |
BEFREE |
Although many disorders manifest with hearing loss, a limited number of sex-linked loci and only one gene (POU3F4) have been shown to be implicated in X-linked non-syndromic hearing impairment.
|
19493398 |
2009 |
|
hearing impairment
|
0.420 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation.
|
9298820 |
1997 |
|
hearing impairment
|
0.420 |
GeneticVariation
|
phenotype |
BEFREE |
Deafness with fixation of the stapes (DFN3) is the most frequent X-linked form of hearing impairment.
|
7839145 |
1995 |
|
hearing impairment
|
0.420 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
Nonsyndromic Deafness
|
0.340 |
Biomarker
|
disease |
BEFREE |
Only three X-linked genes (POU class 3 homeobox 4 (POU3F4), phosphoribosyl pyrophosphate synthetase 1 (PRPS1), and small muscle protein X-linked (SMPX)) are known to be involved in nonsyndromic hearing loss.
|
30874365 |
2020 |
|
Nonsyndromic Deafness
|
0.340 |
Biomarker
|
disease |
CLINGEN |
Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.
|
27941975 |
2016 |
|
Nonsyndromic Deafness
|
0.340 |
Biomarker
|
disease |
CLINGEN |
Deficiency of transcription factor Brn4 disrupts cochlear gap junction plaques in a model of DFN3 non-syndromic deafness.
|
25259580 |
2014 |
|
Nonsyndromic Deafness
|
0.340 |
Biomarker
|
disease |
CLINGEN |
Pou3f4-mediated regulation of ephrin-b2 controls temporal bone development in the mouse.
|
25299585 |
2014 |
|
Nonsyndromic Deafness
|
0.340 |
Biomarker
|
disease |
BEFREE |
In the ear, POU3F4 is essential for mesenchymal remodeling of the bony labyrinth and is the causative gene for DFNX2 human nonsyndromic deafness.
|
23606368 |
2013 |
|
Nonsyndromic Deafness
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
From these results, we conclude that frameshift truncation and extension mutations in the C-terminus of POU3F4 lead to cytoplasmic localization and subsequent proteosomal degradation due to structural aberrations, which cause transcriptional inactivity and thus nonsyndromic hearing loss.
|
23076972 |
2013 |
|
Nonsyndromic Deafness
|
0.340 |
Biomarker
|
disease |
CLINGEN |
In the ear, POU3F4 is essential for mesenchymal remodeling of the bony labyrinth and is the causative gene for DFNX2 human nonsyndromic deafness.
|
23606368 |
2013 |
|
Nonsyndromic Deafness
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss.
|
21193157 |
2010 |
|
Nonsyndromic Deafness
|
0.340 |
Biomarker
|
disease |
CLINGEN |
The sex-linked fidget mutation abolishes Brn4/Pou3f4 gene expression in the embryonic inner ear.
|
10587581 |
2000 |