|
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the gene encoding connexin 26 (GJB2) cause both autosomal recessive and dominant forms of hearing impairment.
|
9843210 |
1998 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Sporadically affected individuals with congenital NSSNHI should be routinely tested for mutations in CX26, especially if the hearing impairment is severe or profound in severity, since identification of a mutation in CX26 allows use of Mendelian recurrence risks.
|
10596881 |
1999 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
This paper presents mutation analysis for GJB2 in Japanese non-syndromic hearing loss patients compatible with recessive inheritance.
|
10633133 |
2000 |
|
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Connexin-26 gene analysis in hearing-impaired newborns.
|
11216657 |
2000 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The hearing capacity of 30 patients (probands and their sibs) with biallelic Cx26 mutations and at least one allele with 167delT demonstrated inter- and intrafamilial variability from profound to mild hearing impairment.
|
11074495 |
2000 |
|
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
In the majority of cases, autosomal dominant nonsyndromic hearing loss is postlingual and progressive, with the exception of hearing impairment in families in which the impairment is linked to DFNA3, DFNA8/12, and DFNA24, the novel locus described in this report.
|
10739769 |
2000 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Finally, our study suggests that GJB2 should be screened for heterozygous mutations in patients with autosomal dominant isolated hearing impairment, whatever the severity of the disease.
|
10807696 |
2000 |
|
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
We show that GJB2 mutations cause a range of phenotypes from mild to profound hearing impairment and that loss of hearing in the high frequency range (4000-8000 Hz) is a characteristic feature in children with molecularly diagnosed connexin 26 hearing impairment.
|
10830906 |
2000 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Among these genes, mutations in GJB2 account for about 50% of all congenital cases of hearing impairment.
|
10980526 |
2000 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Cx26 mutations were found associated with mild to profound, and with asymmetric hearing impairment.
|
11313763 |
2001 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.
|
11483639 |
2001 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.
|
11439000 |
2001 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
We have assessed the efficacy of DHPLC as a screening assay for detecting mutation in Cx26 coding region in 154 patients with hereditary hearing impairment.
|
11438992 |
2001 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
We report a high prevalence of GJB2 heterozygous mutations in patients bearing the 1555A-->G mitochondrial mutation, and describe a family in which potential interaction between GJB2 and a mitochondrial gene appears to be the cause of hearing impairment.
|
11746015 |
2001 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Frequency of the recessive 30delG mutation in the GJB2 gene in Northeast-Hungarian individuals and patients with hearing impairment.
|
11445873 |
2001 |
|
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Dominant mutations of GJB2-encoding connexin-26 (Cx26) have pleiotropic effects, causing either hearing impairment (HI) alone or in association with palmoplantar keratoderma (PPK/HI).
|
11493646 |
2001 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene.
|
11584050 |
2001 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The difference observed in Cx26 prevalence can be explained by the clinical selection of group 2, which ensures minimum risk of including cases of acquired HI.
|
12212857 |
2002 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients.
|
12081719 |
2002 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment.
|
12112666 |
2002 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria.
|
12189487 |
2002 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.
|
12172392 |
2002 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Various types of one-base substitutions were also considered to be causative mutations of GJB2 associated hearing impairment.
|
12167443 |
2002 |