Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The objectives of this study were to clarify the predominant factors determining hearing outcome and to establish a predictive model for SNHI in patients with GJB2 mutations.
|
31246659 |
2020 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study aimed to identify different mutations in the GJB2 gene in patients with severe to profound nonsyndromic sensorineural hearing loss of putative genetic origin, and who were negative or heterozygote for the 35delG mutation.
|
29773520 |
2019 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We confirm that the p. G130V variant of the GJB2 gene is causative of autosomal dominant form of SNHL, although it is not always associated with the presence of skin diseases.
|
31472357 |
2019 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
Biomarker
|
disease |
BEFREE |
DFNB1 (deafness, neurosensory, autosomal-recessive) is the most frequently affected locus.
|
30531641 |
2019 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the GJB2 gene encoding connexin 26 (Cx26) cause autosomal recessive and rarely dominant nonsyndromic sensorineural hearing loss as well as asyndromic hearing impairment with skin problems.
|
31419744 |
2019 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations in connexins expressed in the cochlear epithelium, Cx26 and Cx30, cause sensorineural deafness and in the case of Cx26, is one of the most common causes of non-syndromic, hereditary deafness.
|
28917982 |
2019 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To determine the frequency of 35delG and D13S1830 mutations in GJB2 and GJB6 genes respectively in patients with non-syndromic sensorineural hearing loss from Minas Gerais, Brazil.
|
30837189 |
2019 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GJB2, the gene that encodes connexin 26 (Cx26), are the most common cause of sensorineural hearing impairment.
|
30199819 |
2018 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hearing impairment (HI) caused by mutations in the connexin-26 gene (GJB2) accounts for the majority of cases with inherited, nonsyndromic sensorineural hearing loss.
|
30030956 |
2018 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The entire coding sequences of GJB3/GJB6, as well as deletions in GJB6, in a cohort of NSHI patients (n = 100) carrying likely pathogenic heterozygous GJB2 mutations, were tested.
|
29926981 |
2018 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Parents of all subjects with sensorineural hearing loss were informed that their children may have a GJB2 mutation.
|
30146550 |
2018 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A Novel GJB2 compound heterozygous mutation c.257C>G (p.T86R)/c.176del16 (p.G59A fs*18) causes sensorineural hearing loss in a Chinese family.
|
29665173 |
2018 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here we report three novel dominant GJB2 variants (p.Thr55Ala, p.Gln57_Pro58delinsHisSer, and p.Trp44Gly); two associated with syndromic sensorineural hearing loss and one with nonsyndromic hearing loss.
|
29575629 |
2018 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Numerous autosomal dominant mutations in the Cx26-encoding <i>GJB2</i> gene lead to many skin disorders and sensorineural hearing loss.
|
28428247 |
2017 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the GJB2 gene are the most common cause of hereditary sensorineural deafness.
|
27827000 |
2017 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SLC26A4 coding mutations are genetic causes for nonsyndromic HI in patients bearing heterozygous GJB2 35delG mutations.
|
27861301 |
2017 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
WFS1 and GJB2 mutations in patients with bilateral low-frequency sensorineural hearing loss.
|
28271504 |
2017 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
Biomarker
|
disease |
BEFREE |
Our results indicated that the homozygous mutation c.22C > T was the key genetic reason for the proband, and a digenic effect of BSND and GJB2 might contributed to sensorineural deafness.
|
28012523 |
2017 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We present the genotype/phenotype correlations of a new GJB2 mutation identified in three generations of an Italian family (proband, mother and grandfather) whose members are affected by sensorineural hearing impairment associated with adult-onset palmoplantar keratoderma.
|
28872160 |
2017 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
GJB2 gene mutations mainly resulted in flat-type, profound-to-severe sensorineural hearing loss (SNHL).
|
28717060 |
2017 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
346 patients (176 males, 170 females) with sensorineural hearing loss of 30dB HL or more, aged 21.8±19.9 years (including 147 children <14 years), underwent both genetic study for GJB2 and GJB6 mutations and electrocardiography.
|
27177978 |
2017 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genetic Basis of Nonsyndromic Sensorineural Hearing Loss in the Sub-Saharan African Island Population of São Tomé and Príncipe: The Role of the DFNB1 Locus?
|
27501294 |
2016 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
Biomarker
|
disease |
BEFREE |
The DFNB1 was clearly excluded as a molecular etiology in four (40%) subjects: other recessive deafness genes (N = 3) accounted for SNHL and the causative gene for the other non-DFNB1 subject (N = 1) was not identified.
|
27057829 |
2016 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The sibling with hearing loss also harbored a homozygous mutation in GJB2, c.71G>A (p.Trp24*), which is an established cause of sensorineural hearing loss.
|
27389523 |
2016 |
Sensorineural Hearing Loss (disorder)
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Surprisingly one gene, GJB2, encoding the protein connexin-26, accounts for about 20 % of sensorineural hearing loss (including in India) and is considered the first tier test in evaluating an infant with unexplained congenital hearing loss.
|
26743077 |
2016 |