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 |
GJB2 gene mutations seem to be the most frequent cause of hereditary hearing impairment in several populations.
|
26553399 |
2015 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The c.-259C>T mutation, previously described as -3438C>T, is not a common cause of non-syndromic hearing impairment alone or together with heterozygous pathogenic GJB2 mutations that are statistically overrepresented in non-syndromic hearing impaired patient groups.
|
25085637 |
2015 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
GJB2 gene mutations make the largest contribution to hereditary hearing impairment.
|
20739944 |
2010 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
We performed cross-sectional analyses of GJB2 genotype and audiometric data from 1,531 persons, from 16 different countries, with autosomal recessive, mild-to-profound nonsyndromic HI.
|
16380907 |
2005 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
GJB2 gene mutations are highly prevalent in pre-lingual hearing loss patients from China.
|
27534436 |
2016 |
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 |
Importantly, we also demonstrate that the antibody efficiently inhibits hyperative mutant Cx26 hemichannels implicated in autosomal dominant non-syndromic hearing impairment accompanied by keratitis and hystrix-like ichthyosis-deafness (KID/HID) syndrome.
|
29018324 |
2017 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
The responsible genes in Japanese deafness patients and clinical application using Invader assay.
|
18368581 |
2008 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
In contrast to the volume of information regarding the involvement of GJB2 mutations in hearing impairment in populations of European ancestry, less is known regarding other ethnic groups.
|
12560944 |
2003 |
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Because of its high frequency, DFNB1 hearing impairment has received continued attention from researchers along the years, resulting in a wealth of data that is unparalleled among these disorders.
|
21622233 |
2011 |
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Verified GJB2-negative samples were subsequently subjected to whole exome sequencing (WES) to identify the underlying causes of hearing impairment, and the variants identified in each family were further confirmed by Sanger sequencing.
|
30579064 |
2019 |
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment.
|
16300957 |
2006 |
hearing impairment
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
GJB2 mutations and degree of hearing loss: a multicenter study.
|
16380907 |
2005 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
One mutation in GJB2, 35delG, accounts for a large percentage of GJB2 hearing impairment in Southern Europe whereas a considerably lower frequency has been reported from Northern European populations.
|
15345117 |
2004 |
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 |
GeneticVariation
|
phenotype |
LHGDN |
GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations.
|
15855033 |
2005 |
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Of these 8 patients with GJB2-related hearing impairment, 3 had serviceable hearing into their teenage years.
|
20601923 |
2010 |
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 |
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 |
A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.
|
11483639 |
2001 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Persons diagnosed with DFNB1 segregating two truncating/nonsense mutations had a more severe phenotype than persons carrying two missense mutations, with mean hearing impairments being 88 and 37%, respectively (P < 0.05).
|
15365987 |
2004 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
We report here a non consanguineous assortatively mating hearing impaired family with one of the hearing impaired partners, their hearing impaired sibling and hearing impaired offspring showing compound heterozygosity in the GJB2 gene, involving a dominant mutation p.R184Q and two recessive mutations p.Q124X and c.IVS 1+1G>A in a unique triallelic combination.
|
27481527 |
2017 |
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 |
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Providing a genetic diagnostic test for HI is therefore a challenge especially for ethnic groups where GJB2 mutations are shown to be rare.
|
27766948 |
2016 |