hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
A nonsynonymous mutation in the WFS1 gene in a Finnish family with age-related hearing impairment.
|
28974383 |
2017 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The clinical features include early-onset bilateral optic atrophy (OA), diabetes mellitus (DM), diabetes insipidus, hearing impairment, urinary tract abnormalities and psychiatric illness, and, furthermore, WFS1 variants appear to be associated with non-syndromic DM and hearing impairment.
|
23595122 |
2013 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
|
21538838 |
2011 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
This study describes the phenotype of a family with autosomal dominant optic neuropathy and hearing impairment associated with a novel missense mutation in WFS1.
|
20069065 |
2010 |
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
The aim was to investigate WFS1 gene sequences in a family with diabetes mellitus and hearing impairment.
|
18544103 |
2008 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
This pedigree, in which the proband had non-insulin-dependent diabetes mellitus and congenital hearing impairment and his mother a triple combination of diabetes mellitus, hearing impairment and optic atrophy, was found to be associated with autosomal dominant transmission of the E864K mutation of the WFS1 gene.
|
18544103 |
2008 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
To confirm whether within non-syndromic hearing loss patients WFS1 mutations are found restrictively in patients with LFSNHL and to summarize the mutation spectrum of WFS1 found in Japanese, we screened 206 Japanese autosomal dominant and 64 autosomal recessive (sporadic) non-syndromic hearing loss probands with various severities of hearing loss.
|
17492394 |
2007 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment.
|
17517145 |
2007 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum.
|
16550584 |
2006 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
Two families with nonsyndromic low-frequency hearing loss harbor novel mutations in Wolfram syndrome gene 1.
|
15912360 |
2005 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.
|
12955714 |
2003 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Identification of a novel mutation in WFS1 in a family affected by low-frequency hearing impairment.
|
12650912 |
2003 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Our results indicate that only non-inactivating mutations in WFS1 are responsible for non-syndromic low-frequency hearing impairment.
|
12073007 |
2002 |
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein.
|
9817917 |
1998 |
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
HPO |
|
|
|