hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
This study investigated the relationship between the GJB3 c.538C>T variant and hearing phenotype in Chinese to assist with risk assessment and genetic counseling for hearing loss patients and their families.
|
29106878 |
2017 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
There could be another candidate gene in DFNA2, which could be responsible for the hearing loss phenotype.
|
21651318 |
2011 |
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Therefore, we screened 47 Hungarian GJB2- heterozygous (one mutation in coding exon of the GJB2 gene) patients with hearing impairment for DNA changes in two further connexin genes (GJB6 and GJB3) and in the 5' non-coding region of GJB2 including the splice sites.
|
17671735 |
2007 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in connexin 31 (Cx31) are associated with erythrokeratodermia variabilis (EKV), hearing impairment and peripheral neuropathy; however, the pathological mechanism of Cx31 mutants remains unknown.
|
16077902 |
2005 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Our data suggest that Cx31 alterations are common but have no or a low genetic relevance in the Austrian hearing impaired population with or without Cx26 alterations.
|
15276679 |
2004 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the GJB3 gene, encoding the gap junction protein connexin 31 (Cx31), have been pathogenically linked to erythrokeratodermia variabilis and nonsyndromic autosomal recessive or dominant hereditary hearing impairment.
|
15131355 |
2004 |
hearing impairment
|
0.500 |
AlteredExpression
|
phenotype |
BEFREE |
Thus, haplotype comparison excluded a contribution of the region concerned to the expression of hearing impairment in this family, nor could the susceptibility be assigned to the GJB2, GJB3, MTO1 or TIMM8A genes.
|
12939650 |
2003 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
To determine the contribution of CX31 to sporadic deafness, we assessed 63 individuals with non-syndromic hearing impairment for CX31 mutations.
|
12630965 |
2003 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
To determine the contribution of CX31 to sporadic deafness, we assessed 63 individuals with non-syndromic hearing impairment for CX31 mutations.
|
12630965 |
2003 |
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Mutations in GJB1, GJB2, GJB3 and GJB6 are involved in hearing impairment.
|
11933201 |
2002 |
hearing impairment
|
0.500 |
AlteredExpression
|
phenotype |
BEFREE |
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.
|
11309368 |
2001 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
To study the possible involvement of other members of the connexin family in hereditary hearing impairment, we cloned the gene (GJB3) encoding human gap junction protein beta-3 using homologous EST searching and nested PCR.
|
9843210 |
1998 |
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
To study the possible involvement of other members of the connexin family in hereditary hearing impairment, we cloned the gene (GJB3) encoding human gap junction protein beta-3 using homologous EST searching and nested PCR.
|
9843210 |
1998 |
hearing impairment
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
HPO |
|
|
|