|
Nonsyndromic Deafness
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
<b>Results:</b> 38.21% (120/314) of these 314 patients with nonsyndromic hearing loss from Heze area were related to the genetic defects in these three deafness genes, including 20.06% (63/314) for <i>GJB2</i>, 15.29% (48/314) for <i>SLC26A4,</i> and 2.87% (9/314) for <i>mtDNA12SrRNA</i>.
|
31107121 |
2019 |
|
Nonsyndromic Deafness
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although hundreds of genes have been reported to be associated with nonsyndromic hearing loss (NSHL), GJB2, GJB6, SLC26A4, and mitochondrial (mt) MT-RNR1 and MTTS are the major contributors.
|
28273078 |
2017 |
|
Nonsyndromic Deafness
|
0.100 |
Biomarker
|
disease |
BEFREE |
We aim to screen the mutations of 3 hearing loss (HL) genes (GJB2, SLC26A4, and 12S rRNA) in 71 cases with nonsyndromic hearing loss (NSHL) using microarray and SNPscan, and identify the roles of nonhotspot mutation of these genes in the screening of NSHL.
|
28640090 |
2017 |
|
Nonsyndromic Deafness
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Aim of this study was to investigate the role of SLC26A4 coding mutations in a nonsyndromic hearing impairment (NSHI) patient group bearing heterozygous GJB2 35delG mutations.
|
27861301 |
2017 |
|
Nonsyndromic Deafness
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel missense mutation in the SLC26A4 gene causes nonsyndromic hearing loss and enlarged vestibular aqueduct.
|
28576516 |
2017 |
|
Nonsyndromic Deafness
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The present study aimed to identify the causative SLC26A4 coding mutations in a patient group with nonsyndromic hearing loss (NSHL) and EVA.
|
28990112 |
2017 |
|
Nonsyndromic Deafness
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although there are nearly 100 different causative genes identified for nonsyndromic hearing loss (NSHL), Sanger sequencing-based DNA diagnostics usually only analyses three, namely, GJB2, SLC26A4, and OTOF.
|
27068579 |
2016 |
|
Nonsyndromic Deafness
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).
|
27082237 |
2016 |
|
Nonsyndromic Deafness
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SLC26A4 gene have been shown to cause a type of deafness referred to as large vestibular aqueduct syndrome (LVAS), whereas mutations in the GJB3 gene have been associated with nonsyndromic deafness.
|
27176802 |
2016 |
|
Nonsyndromic Deafness
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This study aimed to investigate the mutations of GJB2, mitochondrial DNA 12S rRNA1555A>G, and SLC26A4 genes in Han Chinese, Hui people, and Tibetan ethnicities in patients with nonsyndromic hearing loss (NSHL) in northwest China.
|
25761933 |
2015 |
|
Nonsyndromic Deafness
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SLC26A4 cause a broad phenotypic spectrum, from typical Pendred syndrome to nonsyndromic hearing loss associated with enlarged vestibular aqueduct.
|
24599119 |
2014 |
|
Nonsyndromic Deafness
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In spite of the extraordinary genetic heterogeneity, variants in GJB2, MT-RNR1, and SLC26A4 genes have been considered as the main reasons of nonsyndromic hearing loss in Chinese population.
|
25149764 |
2014 |
|
Nonsyndromic Deafness
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients.
|
23273637 |
2013 |
|
Nonsyndromic Deafness
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pendred syndrome (PS) and nonsyndromic hearing loss associated with enlarged vestibular aqueduct (EVA) are caused by SLC26A4 mutations.
|
23705809 |
2013 |
|
Nonsyndromic Deafness
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To analyze the prevalence of the three common deafness genes GJB2, mtDNA, and SLC26A4 gene mutations in Tibetan, Tu nationality, and Mongolian patients with nonsyndromic hearing impairment in the Northwest region of China.
|
23834103 |
2013 |
|
Nonsyndromic Deafness
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.
|
23638949 |
2013 |
|
Nonsyndromic Deafness
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SLC26A4 cause either syndromic or nonsyndromic hearing loss.
|
23504402 |
2013 |
|
Nonsyndromic Deafness
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutation of SLC26A4 is one of the major genetic causes in nonsyndromic hearing loss with inner ear malformation.
|
22796198 |
2012 |
|
Nonsyndromic Deafness
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.
|
21704276 |
2011 |
|
Nonsyndromic Deafness
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Deleterious mutations of SLC26A4 cause Pendred syndrome (PS), an autosomal recessive disorder comprising goitre and deafness with enlarged vestibular aqueducts (EVA), and nonsyndromic hearing loss (NSHL).
|
21045265 |
2010 |
|
Nonsyndromic Deafness
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.
|
19509082 |
2009 |
|
Nonsyndromic Deafness
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the GJB2 gene accounted for 18.31% of the patients with nonsyndromic hearing loss, 1555A>G mutation in mitochondrial DNA accounted for 1.76%, and SLC26A4 mutations accounted for 13.73%.
|
19744334 |
2009 |
|
Nonsyndromic Deafness
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we show that mutations in the inwardly rectifying K(+) channel gene KCNJ10 are associated with nonsyndromic hearing loss in carriers of SLC26A4 mutations with an EVA/PS phenotype.
|
19426954 |
2009 |
|
Nonsyndromic Deafness
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
|
19204907 |
2009 |
|
Nonsyndromic Deafness
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
It has been shown that mutations in the SLC26A4 gene are involved in syndromic deafness characterized by congenital sensorineural hearing impairment and goitre (Pendred's syndrome), as well as in congenital isolated deafness (DFNB4), both of which are associated with enlarged vestibular aqueduct (EVA).
|
17443271 |
2007 |