|
Sensorineural Hearing Loss (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
Other WFS1-related disorders such as DFNA6/14/38 nonsyndromic low-frequency sensorineural hearing loss and Wolfram syndrome-like disease with autosomal dominant transmission have been described.
|
29774890 |
2018 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
Other WFS1-related disorders such as DFNA6/14/38 nonsyndromic low-frequency sensorineural hearing loss and Wolfram syndrome-like disease with autosomal dominant transmission have been described.
|
30171196 |
2018 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We report the first mutation in the WFS1 gene causing late-onset HI with audiogram configurations typical for ARHI.
|
28974383 |
2017 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This pedigree, in which the affected subjects presented isolated low-frequency sensorineural hearing impairment with childhood onset, was associated with autosomal dominant inheritance of the c.2591A > G mutation in exon 8 of the Wolframin syndrome 1 (WFS1) gene which was not present in 286 unrelated controls with matched ancestry and is highly conserved across species.
|
28802351 |
2017 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
WFS1 and GJB2 mutations in patients with bilateral low-frequency sensorineural hearing loss.
|
28271504 |
2017 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
WFS1 and non-syndromic low-frequency sensorineural hearing loss: a novel mutation in a Portuguese case.
|
24462758 |
2014 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel missense mutation in the WFS1 gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all-frequencies.
|
25250959 |
2014 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The results support previous findings that genetic variation of WFS1 contributes to the risk of DM and SNHI.
|
23595122 |
2013 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Importantly, our data provide the first evidence that a single, recurrent mutation in WFS1, p.A684V, may be a common cause of ADOA and SNHL, similar to the role played by the p.R445H mutation in OPA1.
|
21538838 |
2011 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This unique collection of audiometric data from genotyped Wolfram syndrome patients shows no substantial progression in sensorineural hearing impairment with advancing age, no relation to the types of WFS1 mutations identified, and, with exclusion of the subgroup of Dutch female patients, no significant sex-related differences.
|
18700423 |
2008 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
We discovered a novel heterozygous missense mutation in exon 8 of WFS1 predicting a p.R685P amino acid substitution that is likely to underlie the LFSNHL phenotype in the American family.
|
18518985 |
2008 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We discovered a novel heterozygous missense mutation in exon 8 of WFS1 predicting a p.R685P amino acid substitution that is likely to underlie the LFSNHL phenotype in the American family.
|
18518985 |
2008 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese.
|
17492394 |
2007 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
We discovered a novel heterozygous missense mutation in exon 8 of WFS1 (i.e., Y669H) which is likely responsible for the LFSNHL phenotype in this particular Taiwanese family.
|
17517145 |
2007 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We discovered a novel heterozygous missense mutation in exon 8 of WFS1 (i.e., Y669H) which is likely responsible for the LFSNHL phenotype in this particular Taiwanese family.
|
17517145 |
2007 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.
|
12073007 |
2002 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.
|
12073007 |
2002 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.
|
11709537 |
2001 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.
|
11709537 |
2001 |
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|
|
Sensorineural Hearing Loss (disorder)
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
|
|
|