DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the <i>GJB2</i> gene are the main cause for nonsyndromic autosomal recessive deafness 1A (DFNB1A) in many populations.
|
31195736 |
2019 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
0.400 |
Biomarker
|
disease |
CLINGEN |
Perinatal Gjb2 gene transfer rescues hearing in a mouse model of hereditary deafness.
|
25801282 |
2015 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The deleted region hereby reported encompassed 34 known genes, including GJA3, GJB2, and GJB6, which are responsible for autosomal recessive deafness, FGF9, which plays crucial roles in embryonic neurological development, and ATP8A2, which causes a cerebellar ataxia and disequilibrium syndrome.
|
24807585 |
2014 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the GJB2 gene are the most common cause of prelingual, non-syndromic autosomal recessive deafness in many populations; the c.35delG mutation is the most common in Caucasian populations.
|
24346070 |
2013 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
0.400 |
Biomarker
|
disease |
BEFREE |
GJB2 and GJB6 screening in Tunisian patients with autosomal recessive deafness.
|
23434199 |
2013 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The single-nucleotide guanine deletion (35delG) of the GJB2 gene coding for connexin 26 was shown to be the main genetic cause of autosomal recessive deafness among Europeans.
|
22567152 |
2012 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
0.400 |
Biomarker
|
disease |
CLINGEN |
BAAV mediated GJB2 gene transfer restores gap junction coupling in cochlear organotypic cultures from deaf Cx26Sox10Cre mice.
|
21876744 |
2011 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect.
|
21776002 |
2011 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Connexin 26 mutations in autosomal recessive deafness disorders: a review.
|
17365058 |
2007 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Fifty to eighty percent of autosomal recessive deafness is due to mutations in the GJB2 gene encoding connexin 26.
|
15954104 |
2005 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the connexin 26 gene (GJB2) cause a significant proportion of prelingual non-syndromic autosomal recessive deafness in all populations studied so far.
|
15855033 |
2005 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
0.400 |
Biomarker
|
disease |
CLINGEN |
Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss.
|
15241677 |
2004 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive deafness has been linked both to the monogenetic occurrence of mutated GJB2 or the GJB6 deletion del(GJB6-D13S1830) and digenic GJB2/del(GJB6-D13S1830) inheritance.
|
15464308 |
2004 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A simple method of screening for the common connexin-26 gene 35delG mutation in nonsyndromic neurosensory autosomal recessive deafness.
|
12885338 |
2003 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Connexin-26 gene have been shown to be a major contributor to prelingual, nonsyndromic, autosomal recessive deafness in many populations.
|
12820705 |
2003 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Though mutations in the GJB2 gene have been shown to cause autosomal recessive deafness in Indian families, the frequencies of the various mutations are still unknown.
|
12833397 |
2003 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
0.400 |
Biomarker
|
disease |
CLINGEN |
Hearing loss: frequency and functional studies of the most common connexin26 alleles.
|
12176036 |
2002 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding the gap-junction protein connexin 26 (GJB2) on chromosome 13q11 (DFNB1 locus) have been shown as a major contributor to prelingual, non-syndromic, autosomal recessive deafness in Caucasian populations.
|
11180233 |
2001 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The GJB2 (connexin 26) gene, one of the major genes responsible for autosomal recessive deafness, has been investigated previously by a variety of techniques, including PCR-SSCP and sequencing of the entire gene for screening of unknown mutations, and allele-specific PCR, ASO, and PCR-mediated site-directed mutagenesis for the detection of the common mutation 35delG.
|
10874298 |
2000 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
0.400 |
Biomarker
|
disease |
CLINGEN |
Connexin-26 mutations in sporadic and inherited sensorineural deafness.
|
9482292 |
1998 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
0.400 |
Biomarker
|
disease |
CLINGEN |
A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).
|
9507396 |
1998 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
0.400 |
Biomarker
|
disease |
CLINGEN |
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
|
9529365 |
1998 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
0.400 |
Biomarker
|
disease |
BEFREE |
These findings are in agreement with a recent study showing that mutations in the connexin26 gene are associated with genetic forms of deafness in three Pakistani families and that GJB2 is DFNB1.
|
9285800 |
1997 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
0.400 |
Biomarker
|
disease |
CLINGEN |
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.
|
9139825 |
1997 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
0.400 |
Biomarker
|
disease |
BEFREE |
Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families.
|
9195157 |
1997 |