|
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
A total of 271 children with nonsyndromic sensorineural hearing loss and EVA underwent SLC26A4 gene screening.
|
24245694 |
2013 |
|
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 |
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 |
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 |
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 |
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 |
SLC26A4 coding mutations are genetic causes for nonsyndromic HI in patients bearing heterozygous GJB2 35delG mutations.
|
27861301 |
2017 |
|
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 |
Study on the relationship between the pathogenic mutations of SLC26A4 and CT phenotypes of inner ear in patient with sensorineural hearing loss.
|
30842343 |
2019 |
|
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A novel variant of SLC26A4 and first report of the c.716T>A variant in Iranian pedigrees with non-syndromic sensorineural hearing loss.
|
30077349 |
2019 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
This study aims to investigate the mutation spectrum of GJB2, mitochondrial 12S rRNA, and SLC26A4 genes of Han Chinese, Hui people, and Uyghur ethnicities in sensorineural hearing loss (SNHL) patients in northwest of China.
|
24804242 |
2014 |
|
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 |
The diagnostic yield on the SNHL patients was 42% (21/50): 47.6% (10/21) with autosomal recessive inheritance pattern (BSND, CDH23, MYO15A, STRC [n = 2], USH2A [n = 3], RDX, SLC26A4); 38.1% (8/21) autosomal dominant (ACTG1 [n = 3; 2 de novo], CHD7, GATA3 [de novo], MITF, P2RX2, SOX10), and 14.3% (3/21) X-linked (COL4A5 [de novo], POU3F4, PRPS1).
|
29986705 |
2018 |
|
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 |
Whole exome sequencing and/or Sanger sequencing of SLC26A4 in 117 individuals with sensorineural hearing loss with or without inner ear anomalies but not with goiter from Turkey, Iran, and Mexico were performed.
|
28964290 |
2017 |
|
Sensorineural Hearing Loss (disorder)
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
|
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 |
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 |
To study the distribution characteristics of common mutations in the GJB2, SLC26A4, and mtDNA genes in children with severe or profound sensorineural hearing loss (SNHL) in southwestern China.
|
25493717 |
2015 |
|
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This is the first reported case of a patient with the SLC26A4 gene mutation c.1105A > G (p.K369E) who had low-frequency sensorineural hearing loss.
|
25572613 |
2015 |
|
Sensorineural Hearing Loss (disorder)
|
0.700 |
Biomarker
|
disease |
BEFREE |
<b>Material and Methods:</b> HRCT scanning of the temporal bones of 82 cases with normal inner ear structures and 104 cases with an EVA and bilaterally sensorineural hearing loss (SNHL) was performed.
|
31124731 |
2019 |