|
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 |
An important gene that should be considered in congenital or childhood onset autosomal recessive HI is GJB2 since mutations in this gene account for at least 50% of this type of HI.
|
14676470 |
2004 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the connexin 26 (Cx26) gene (GJB2) are a common cause of hereditary hearing impairment which affects approximately 1 in 2000 newborn children.
|
14676473 |
2004 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Lastly, using multidimensional scaling and ADMIXTURE analyses, we delineate the degree of Asian/European admixture in the HI families understudy, and show that Roma individuals carrying the GJB2 p.(Trp24*) and MANBA c.2158-2A>G variants have a more pronounced South Asian background, whereas the other hearing-impaired Roma display an ancestral background similar to Europeans.
|
30872814 |
2019 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India.
|
12746422 |
2003 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The contribution of GJB2 (Connexin 26) 35delG to age-related hearing impairment and noise-induced hearing loss.
|
17909436 |
2007 |
|
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 |
BEFREE |
Because of the high frequency of DFNB1 gene mutations and the availability of genetic diagnostic tests involving these genes, they are the best candidates to develop a risk prediction model of being hearing impaired.
|
16941638 |
2006 |
|
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
GJB2 and MTRNR1 contributions in children with hearing impairment from Northern Cameroon.
|
21114417 |
2011 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Within a spectrum of GJB2 mutations found in the Japanese population, the phenotype of the most prevalent mutation, 235delC, was found to show more severe hearing impairment than that of V37I, which is the second most frequent mutation.
|
15700112 |
2005 |
|
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 |
LHGDN |
Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients.
|
12081719 |
2002 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
Although most studies of GJB2 mutations have dealt with hearing-impaired patients, there are few reports of the frequency of these mutations in the general population.
|
19043807 |
2008 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
Several studies have reported that mutations in the GJB2 gene (coding for connexin26) are a common cause of recessive non-syndromic hearing impairment.
|
12833397 |
2003 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Mutational analysis of GJB2 gene in 86 unrelated Yakut patients with congenital HI without other clinical features has been performed.
|
21776002 |
2011 |
|
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
This review focuses on the role of connexin 26 and mitochondrial 12S rRNA genes in hearing which will be helpful for better understanding of genes in sporadic and aminoglycoside-induced non syndromic hearing impairment.
|
19942739 |
2009 |
|
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 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment.
|
17357124 |
2007 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
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 |
We hereby describe the hearing impairment in Dutch patients with biallelic connexin 26 (GJB2) and GJB2+connexin 30 (GJB6) mutations.
|
15656949 |
2005 |
|
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 |
It should be complemented with the 35delG/GJB2 mutation analysis, because the identification of the mutation and the etiologic diagnosis might improve the medical treatment and genetic counselling of patients and families with hearing impairment.
|
16158474 |
2005 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Our study aimed to investigate GJB2 (connexin 26) and GJB6 (connexin 30) mutations associated with non-syndromic childhood hearing impairment (HI) as well as the environmental causes of HI in Ghana.
|
31620164 |
2019 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
In the present study we screened 500 healthy control individuals and a group of patients with HI from Northeastern Hungary for GJB2 mutations.
|
15146474 |
2004 |
|
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 |