Congenital ear anomaly NOS (disorder)
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Large vestibular aqueduct syndrome (LVAS), caused by mutation in the SLC26A4 (NM_002072) gene, is an inner ear malformation that can lead to hearing loss.
|
31692010 |
2020 |
Congenital ear anomaly NOS (disorder)
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Also, the bi-allelic pathogenic mutations of SLC26A4 are more likely to induce inner ear malformation than single allele pathogenic mutation.
|
30842343 |
2019 |
Congenital ear anomaly NOS (disorder)
|
0.100 |
GeneticVariation
|
group |
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 |
Congenital ear anomaly NOS (disorder)
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Further, no patients harbored biallelic mutations in the SLC26A4 gene or the common inner ear malformation Enlarged Vestibular Aqueduct (EVA).
|
26188157 |
2015 |
Congenital ear anomaly NOS (disorder)
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The enlarged vestibular aqueduct (EVA) was the most common inner ear malformation and ∼79.10% of EVA cases were associated with the SLC26A4 mutations.
|
25493717 |
2015 |
Congenital ear anomaly NOS (disorder)
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Recessive mutations in SLC26A4 and in rarer cases double heterozygous mutations of FOXI1/SLC26A4 and KCNJ10/SLC26A4 lead to hearing impairment associated with enlarged vestibular aqueduct (EVA), the most common inner ear malformation.
|
23918157 |
2013 |
Congenital ear anomaly NOS (disorder)
|
0.100 |
Biomarker
|
group |
BEFREE |
PS and DFNB4 can be associated with inner ear malformations.
|
22717225 |
2012 |
Congenital ear anomaly NOS (disorder)
|
0.100 |
Biomarker
|
group |
BEFREE |
SLC26A4 accounts for 74.4% of inner ear malformations in our cohort, whereas FOXI1, KCNJ10, and GJB2 mutations are not common.
|
22412181 |
2012 |
Congenital ear anomaly NOS (disorder)
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutation of SLC26A4 is one of the major genetic causes in nonsyndromic hearing loss with inner ear malformation.
|
22796198 |
2012 |
Congenital ear anomaly NOS (disorder)
|
0.100 |
Biomarker
|
group |
BEFREE |
Slc26a4-null mice are profoundly deaf, with severe inner ear malformations and degenerative changes that do not model the less severe human phenotype.
|
21965328 |
2011 |
Congenital ear anomaly NOS (disorder)
|
0.100 |
GeneticVariation
|
group |
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 |
Congenital ear anomaly NOS (disorder)
|
0.100 |
Biomarker
|
group |
BEFREE |
Among them, 28 patients with isolated Mondini dysplasia (MD group), 50 patients with enlarged vestibular aqueduct with Mondini dysplasia (EVA with MD group), 50 patients with enlarged vestibular aqueduct without Mondini dysplasia (EVA group), and 16 patients with other types of inner ear malformations (IEM group) were identified.
|
21961810 |
2011 |
Congenital ear anomaly NOS (disorder)
|
0.100 |
Biomarker
|
group |
BEFREE |
Mutations in SLC26A4 cause Pendred syndrome (PS) - hearing loss with goitre - or DFNB4 - non-syndromic hearing loss (NSHL) with inner ear abnormalities such as Enlarged Vestibular Aqueduct (EVA) or Mondini Dysplasia (MD).
|
20597900 |
2010 |
Congenital ear anomaly NOS (disorder)
|
0.100 |
GeneticVariation
|
group |
BEFREE |
It has been recently demonstrated that some families with features of PDS do not have the inner ear malformations and mutations in the PDS gene.
|
21274344 |
2010 |
Congenital ear anomaly NOS (disorder)
|
0.100 |
GeneticVariation
|
group |
BEFREE |
To investigate the implication of SLC26A4, FOXI and KCNJ10 genes in unilateral hearing impairment associated with ipsilateral inner ear malformation (Enlargement of the vestibular aqueduct and/or Mondini dysplasia).
|
20621367 |
2010 |
Congenital ear anomaly NOS (disorder)
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We also sequenced the SLC26A4 gene in seven patients with inner ear malformations, including enlarged vestibular aqueduct (EVA) revealed by computer tomography.
|
18585793 |
2008 |
Congenital ear anomaly NOS (disorder)
|
0.100 |
Biomarker
|
group |
BEFREE |
Among them, 17 patients with bi-allelic SLC26A4 mutations were all confirmed to have EVA or other inner ear malformation by CT scan.
|
19040761 |
2008 |
Congenital ear anomaly NOS (disorder)
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The SLC26A4 gene has been screened for mutations in 16 subjects from 14 unrelated Turkish families with a variety of inner ear anomalies ranging from Michel aplasia to incomplete partition-II and EVA.
|
17197040 |
2007 |
Congenital ear anomaly NOS (disorder)
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Twelve patients (three females and nine males aged 7-47 years) with Pendred syndrome (all from the same ethnic isolate and with the same mutation in the PDS gene) were evaluated for inner-ear malformation at thin-section CT.Both ears were evaluated.
|
15758191 |
2005 |
Congenital ear anomaly NOS (disorder)
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In order to verify this hypothesis, we surveyed mutations in the SLC26A4(PDS) gene, which were documented to cause enlarged vestibular aqueduct (EVA) and Mondini's dysplasia (incomplete partition of the cochlea), in 35 families with various types of inner ear malformations.
|
15905611 |
2005 |
Congenital ear anomaly NOS (disorder)
|
0.100 |
GeneticVariation
|
group |
BEFREE |
PDS mutations were found only in patients with enlarged vestibular aqueducts and EYA1 mutations were detected only in patients with ear pits and cervical fistulae, indicating that these two genes are associated with particular forms of middle and inner ear malformation.
|
11558900 |
2001 |