|
Nonsyndromic Deafness
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants at the DFNB1 locus encompassing the GJB2 and GJB6 genes account for 50% of autosomal-recessive, congenital nonsyndromic hearing loss in the United States.
|
26444186 |
2016 |
|
Nonsyndromic Deafness
|
0.200 |
Biomarker
|
disease |
BEFREE |
The DFNB1 locus, which contains the GJB2 and GJB6 genes, plays a key role in nonsyndromic hearing loss.
|
26075227 |
2015 |
|
Nonsyndromic Deafness
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico.
|
25288386 |
2014 |
|
Nonsyndromic Deafness
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GJB6 and GJA1 are not a major cause of nonsyndromic deafness in this group of Africans from Cameroon and South Africa.
|
24785695 |
2014 |
|
Nonsyndromic Deafness
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our recent studies indicate that nonsyndromic hearing loss (NSHL) in the Saudi Arabian population is genetically heterogeneous and is not caused by mutations in GJB2 and GJB6, the most common genes for deafness in various populations worldwide.
|
23510777 |
2013 |
|
Nonsyndromic Deafness
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Evaluation of the pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss.
|
22617145 |
2013 |
|
Nonsyndromic Deafness
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
GJB2 and GJB6 genes and the A1555G mitochondrial mutation are only minor causes of nonsyndromic hearing loss in the Qatari population.
|
22103400 |
2012 |
|
Nonsyndromic Deafness
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This study aims to determine the prevalence of GJB2-35delG, GJB2-167delT, GJB2-235delC, GJB2-W24X, del (GJB6-D13S1830), and del (GJB6-D13S1854) mutations in patients with nonsyndromic deafness in the Espirito Santo State, Brazil.
|
20563649 |
2011 |
|
Nonsyndromic Deafness
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that the p.A40V mutation in CX30 causes autosomal-dominant nonsyndromic hearing loss.
|
21731760 |
2011 |
|
Nonsyndromic Deafness
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
About half of all cases of genetically caused nonsyndromic hearing loss can be ascribed to mutations in the GJB2 gene (connexin 26) and to deletions in the GJB6 gene(connexin 30).
|
20583176 |
2010 |
|
Nonsyndromic Deafness
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Children with nonsyndromic hearing loss diagnosed as DFNB1 or non-DFNB1 after screening GJB2 allele variants and the large GJB6 deletion.
|
19393408 |
2009 |
|
Nonsyndromic Deafness
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The aim of the study was to determine (1) the frequency and type of mutations in the coding region of the GJB2 gene (sequencing), (2) the frequency of splice site mutation IVS1 + 1G > A in the GJB2 gene (multiplex ligation-dependent probe amplification analysis), (3) possible copy number changes in the GJB2, GJB3, GJB6, and WFS1 genes (multiplex ligation-dependent probe amplification analysis), and (4) the frequency of del(GJB6-D13S1830) in the GJB6 gene in 58 unrelated patients with nonsyndromic hearing loss from Croatia.
|
19814620 |
2009 |
|
Nonsyndromic Deafness
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss.
|
19371219 |
2009 |
|
Nonsyndromic Deafness
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GJB2 and GJB6, the genes encoding the gap-junction proteins connexin 26 and connexin 30, are the most common cause of autosomal recessive nonsyndromic deafness in many populations across the world.
|
18797288 |
2008 |
|
Nonsyndromic Deafness
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss.
|
18294049 |
2007 |
|
Nonsyndromic Deafness
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This paper presents a mutation analysis of the GJB2 and GJB6 (Connexin 30) genes in 30 Greek Cypriot patients with sensorineural nonsyndromic hearing loss compatible with recessive inheritance.
|
17253936 |
2006 |
|
Nonsyndromic Deafness
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Various cases of nonsyndromic hearing impairment were screened for alterations in GJB2 and GJB6 in this clinical study.
|
15744158 |
2005 |
|
Nonsyndromic Deafness
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Connexin 26 and connexin 30 mutations in children with nonsyndromic hearing loss.
|
15064611 |
2004 |
|
Nonsyndromic Deafness
|
0.200 |
Biomarker
|
disease |
BEFREE |
Molecular testing for GJB2 and GJB6 should be offered to all patients with nonsyndromic hearing loss.
|
12865758 |
2004 |
|
Nonsyndromic Deafness
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Among probands diagnosed with nonsyndromic hearing loss not due to mutations of connexin 26 (GJB2) and/or connexin 30 (GJB6), and below the age of 10, 2 of 20 (10%) were homozygous for the R245X mutation.
|
15028842 |
2004 |
|
Nonsyndromic Deafness
|
0.200 |
Biomarker
|
disease |
BEFREE |
The connexin26 gene ( GJB2) has been shown to be responsible for DFNB1 and DFNA3 (Autosomal Recessive Hereditary Nonsyndromic Deafness Locus 1 and Autosomal Dominant Hereditary Nonsyndromic Deafness Locus 3).
|
12522692 |
2002 |
|
Nonsyndromic Deafness
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.
|
11807148 |
2002 |
|
Nonsyndromic Deafness
|
0.200 |
Biomarker
|
disease |
BEFREE |
Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12.
|
10610709 |
1999 |
|
Nonsyndromic Deafness
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The missense mutation 101T-->C has been reported to be a dominant allele of DFNA3, a dominant nonsyndromic hearing loss.
|
9529365 |
1998 |
|
Nonsyndromic Deafness
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A YAC contig and an EST map in the pericentromeric region of chromosome 13 surrounding the loci for neurosensory nonsyndromic deafness (DFNB1 and DFNA3) and limb-girdle muscular dystrophy type 2C (LGMD2C).
|
8530067 |
1995 |