hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the GJB2 gene, which encodes the gap junction protein connexin 26 (Cx26), are the primary cause of hereditary prelingual hearing impairment.
|
25628337 |
2015 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The homozygous p.V37I variant of GJB2 is frequent in East Asians and has been reported to have a pathogenic role in mild-to-moderate hearing impairment (HI).
|
24654934 |
2015 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
In 59 patients (31.3%) of the 188 probands, the hearing impairment was due to GJB2 mutations, 45 (23.9%) of these being homozygous for 35delG mutation and 14 (7.4%) compound heterozygous for GJB2 mutations in the coding region of exon 2 whereas no significant sequence variation was found in exon 1.
|
25214170 |
2015 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Connexin 26 gene mutations were only present in bilateral hearing impairment, whereas CT abnormalities were related to unilateral (P=0.003), profound (P<0.001) hearing loss.
|
25555640 |
2015 |
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Besides GJB2/GJB6 (DFNB1), STRC is a major contributor to congenital hearing impairment.
|
26011646 |
2015 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
As the first comprehensive study in Iran, we have targeted GJB2-related Iranian heterozygotes, looking for second mutant allele which leads to hearing impairment.
|
25555641 |
2015 |
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Reproductive management through integration of PGD and MPS-based noninvasive prenatal screening/diagnosis for a family with GJB2-associated hearing impairment.
|
26432548 |
2015 |
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
DFNB1 is the most prevalent type of hereditary hearing impairment known nowadays and the audiometric phenotype is very heterogeneous.
|
26188104 |
2015 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary Hearing Impairment.
|
26668150 |
2015 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The hearing loss phenotype ranged from mild to profound in all patients with the homozygous p.V37I variation or compound p.V37I plus other GJB2 pathogenic mutation.
|
26061099 |
2015 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Our findings provide further evidence of a correlation between the p.R75Q mutation in Cx26 and a syndromic hearing impairment with palmoplantar keratoderma.
|
24975403 |
2014 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
A majority (10/11) of subjects carrying dominant GJB2 mutations exhibited palmoplantar keratoderma in addition to hearing impairment.
|
24945352 |
2014 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
To establish a high-throughput, low-cost method for neonatal genetic testing of the p.V37I of GJB2 gene, which is highly prevalent in East Asians and strongly associated with postnatal childhood hearing impairment.
|
24814571 |
2014 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment.
|
24774219 |
2014 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Here we show in the participating extended family a homozygous mutation c.506G>A, (TGC>TAC) p.Cys169Tyr, in the GJB2 gene, which could be proven for the first time and led to nonsyndromal severe hearing impairment in the afflicted patients.
|
24551843 |
2014 |
hearing impairment
|
0.500 |
AlteredExpression
|
phenotype |
BEFREE |
The residual expression of wild-type connexin-26 [corrected] encoded by these transcripts probably underlies the mild severity and late onset of the hearing impairment of these subjects.
|
24039984 |
2013 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations often associated with HI, i.e. the DFNB1 mutations c.35delG in GJB2, deletions del(GJB6-D13S1830) and del(GJB6-D13S1854), and A1555G in the mitochondrial gene MTRNR1 were initially analyzed, with additional mutations in GJB2 identified by sequencing the coding region of the gene.
|
23684175 |
2013 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the GJB2 gene are amongst the most common causes of hearing impairment in populations of various ethnic backgrounds.
|
23873582 |
2013 |
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
The long-term results of this study show that CI is also effective in the development of speech performance after CI in Japanese children with GJB2-related hearing impairments as HL due to other etiologies.
|
23477838 |
2013 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Connexin 26 and 30 mutations in paediatric patients with congenital, non-syndromic hearing loss treated with cochlear implantation in Mediterranean Turkey.
|
23171692 |
2013 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Despite the many studies on the involvement of GJB2 mutations in hearing impairment in different populations, there is little information on genetic deafness in Brazil, especially in the Amazon region.
|
23503914 |
2013 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The data suggest that STRC may be a common contributor to NBSNHI among GJB2 mutation negative probands, especially in those with mild to moderate hearing impairment.
|
22147502 |
2012 |
hearing impairment
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
Homozygous M34T mutation of the GJB2 gene associates with an autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish families.
|
22668073 |
2012 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of non-syndromic recessive hearing impairment in many countries and are largely dependent on ethnic groups.
|
22484064 |
2012 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Analyses of gap junction protein beta-2 and -6 genes revealed that similar pathological genotypes, occurring with similar frequencies, were responsible for progressive hearing loss, compared with reported genotypes for non-progressive hearing loss patients.
|
22704424 |
2012 |