Sensorineural Hearing Loss (disorder)
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.
|
8630497 |
1996 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The pseudo-Pendred phenotype exhibited by the family without PDS mutations is likely caused by an autoimmune thyroid disease associated with a sensorineural hearing loss of different origin.
|
11919333 |
2002 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.
|
11932316 |
2002 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
Biomarker
|
disease |
CTD_human |
Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct.
|
15279074 |
2004 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct.
|
15279074 |
2004 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Sensorineural hearing loss associated with enlargement of the vestibular aqueduct (EVA) can be associated with mutations of the SLC26A4 gene.
|
15679828 |
2005 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
Biomarker
|
disease |
CTD_human |
Molecular analysis of the PDS gene in a nonconsanguineous Sicilian family with Pendred's syndrome.
|
16053392 |
2005 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Chloride uptake studies were made using HEK293-Phoenix cells expressing human wild type SLC26A4 (pendrin) and a mutant (SLC26A4(S28R)) we recently described in a patient with hypothyroidism, goiter and sensorineural hearing loss.
|
16791000 |
2006 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
Biomarker
|
disease |
CTD_human |
The H723R mutation in the PDS/SLC26A4 gene is associated with typical Pendred syndrome in Korean patients.
|
17322586 |
2006 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
Biomarker
|
disease |
BEFREE |
Pendred syndrome (PS) and DFNB4, a non-syndromic sensorineural hearing loss with enlargement of the vestibular aqueduct (EVA), are caused by mutations in the SLC26A4 gene.
|
18285825 |
2008 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Mutations in the SLC26A4 gene are second only to GJB2 mutations as a currently identifiable genetic cause of sensorineural hearing loss.
|
18641518 |
2008 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SLC26A4 gene are second only to GJB2 mutations as a currently identifiable genetic cause of sensorineural hearing loss.
|
18641518 |
2008 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Definition of the SLC26A4 mutation spectrum among different populations with sensorineural hearing loss is important for development of optimal genetic screening services for congenital hearing impairment.
|
19509082 |
2009 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss.
|
19615760 |
2009 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our data confirm the high prevalence of SLC26A4 mutations in Chinese patients with SNHL and EVA.
|
19786220 |
2009 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To assess the prevalence of Connexin 26 (GJB2), Connexin 30 (GJB6), and Pendred (SLC26A4) mutations in a population of adult cochlear implant patients with a history of either early idiopathic or hereditary progressive sensorineural deafness.
|
20601923 |
2010 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Molecular epidemiological analysis of mitochondrial DNA12SrRNA A1555G, GJB2, and SLC26A4 mutations in sporadic outpatients with nonsyndromic sensorineural hearing loss in China.
|
21162657 |
2011 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SLC26A4 gene can cause both Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct, two conditions associated with sensorineural hearing loss.
|
21366435 |
2011 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We describe a 46-year-old female with sensorineural deafness and hypothyroidism, who presented with severe hypokalaemic metabolic alkalosis during inter-current illnesses on two occasions, and who was found to be homozygous for a loss-of-function mutation (V138F) in SLC26A4.
|
21551164 |
2011 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Enlargement of the vestibular aqueduct (EVA) is a common inner ear malformation found in children with sensorineural hearing loss that is frequently associated with loss-of-function or hypo-function mutations of SLC26A4.
|
22116367 |
2011 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recessive mutations of the SLC26A4 (PDS) gene on chromosome 7q31 can cause sensorineural hearing loss with goiter (Pendred syndrome) or non-syndromic autosomal recessive hearing loss (DFNB4).
|
22429511 |
2012 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Another 15 patients without a PDS mutation but who had sensorineural hearing loss were also recruited as a comparison group.
|
23523376 |
2013 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The overall prevalence of SLC26A4 mutations in nonsyndromic childhood sensorineural hearing loss (11.2%, 37/330) were determined by sequencing of SLC26A4 in 330 hearing impaired children who did not undergo inner ear radiologic imaging prior to their genetic test.
|
23918157 |
2013 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SLC26A4 mutations have also been identified in patients exhibiting isolated sensorineural hearing loss without apparent thyroid abnormality (nonsyndromic enlargement of the vestibular aqueduct; nonsyndromic EVA).
|
24224479 |
2014 |