|
rs457717
|
|
|
0.810 |
GeneticVariation |
BEFREE |
The IQGAP2 tagSNP rs457717 was genotyped in accordance with the different ARHI phenotypes.
|
26187738 |
2016 |
|
rs457717
|
|
T |
0.810 |
GeneticVariation |
GWASCAT |
A genome-wide association study for age-related hearing impairment in the Saami.
|
20068591 |
2010 |
|
rs457717
|
|
T |
0.810 |
GeneticVariation |
GWASDB |
A genome-wide association study for age-related hearing impairment in the Saami.
|
20068591 |
2010 |
|
rs72474224
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We delineated the longitudinal auditory features of the highly prevalent GJB2 p.V37I mutation on a general population basis and confirmed the utility of newborn genetic screening in identifying infants with late-onset or progressive hearing impairment undetectable by newborn hearing screening.Genet Med 19 1, 6-12.
|
27308839 |
2017 |
|
rs72474224
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Among the hearing impaired subjects with homozygous p.V37I, the onset of HI was congenital in 65% (11/17) and delayed in 35% (6/17).
|
24654934 |
2015 |
|
rs72474224
|
|
|
0.800 |
GeneticVariation |
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 |
|
rs72474224
|
|
|
0.800 |
GeneticVariation |
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 |
|
rs72474224
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Our results indicated that the p.V37I exclusive genotype of GJB2 may cause subclinical hearing impairment at birth and increases risk for postnatal PCHI.
|
22574200 |
2012 |
|
rs72474224
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We tentatively suggest that M34T and V37I might cause mild HI characterized by relatively late onset and progression.
|
17935238 |
2007 |
|
rs72474224
|
|
|
0.800 |
GeneticVariation |
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 |
|
rs72474224
|
|
|
0.800 |
GeneticVariation |
BEFREE |
However, the lack of correlation in the severity and age-of-onset in hearing impairment with homozygous or heterozygous G79A or G109A or combination of both variants in the GJB2 gene in those subjects with hearing impairment and normal hearing indicates that those variants of GJB2 gene may not be a modifier of the phenotypic effects of the T7511C mutation in those subjects.
|
15670746 |
2005 |
|
rs72474224
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Several common mutations (M34T, V37I, and L90P) were associated with mild-to-moderate HI (median 25-40 dB).
|
16380907 |
2005 |
|
rs72474224
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We demonstrated that certain mutation combinations (including the combination of 35delG with the missense mutations L90P, V37I, or the splice-site mutation IVS1+1G>A, and the V37I/V37I genotype) are associated with significantly less hearing impairment compared with 35delG homozygous genotypes.
|
14985372 |
2004 |
|
rs72474224
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs72474224
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs35887622
|
|
G |
0.740 |
CausalMutation |
CLINVAR |
Homozygous M34T mutation of the GJB2 gene associates with an autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish families.
|
22668073 |
2012 |
|
rs35887622
|
|
|
0.740 |
GeneticVariation |
BEFREE |
This finding apparently could not be explained by low degree of HI associated with M34T and V37I since another mutation causing comparably mild HI (L90P) did not have reduced penetrance.
|
17935238 |
2007 |
|
rs35887622
|
|
|
0.740 |
GeneticVariation |
BEFREE |
These data support the view that M34T is a pathological variant of Cx26 associated with hearing impairment.
|
16849369 |
2006 |
|
rs35887622
|
|
G |
0.740 |
CausalMutation |
CLINVAR |
Several common mutations (M34T, V37I, and L90P) were associated with mild-to-moderate HI (median 25-40 dB).
|
16380907 |
2005 |
|
rs35887622
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The next frequent mutation detected in the group of hearing impaired persons was the c.101T>C mutation (9/76 alleles; 11.8%).
|
12497637 |
2003 |
|
rs35887622
|
|
|
0.740 |
GeneticVariation |
BEFREE |
In summary, we provide data that support M34T acting as a recessive GJB2 allele associated with mild-moderate prelingual hearing impairment.
|
11134236 |
2001 |
|
rs80338950
|
|
|
0.730 |
GeneticVariation |
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 |
|
rs80338950
|
|
|
0.730 |
GeneticVariation |
BEFREE |
We determined the occurrence of c.-259C>T in cases of non-syndromic hearing impairment lacking known pathogenic alterations in GJB2 (n = 43), a non-syndromic hearing impaired patient group (n = 15) bearing the heterozygous GJB2 mutations c.35delG, c.[79G>A];[341A>G] (p. [V27I];[E114G]), c.109G>A (p.V37I), c.154G>C (p.V52L), c.262G>T (p.A88S), c.269T>C (p.L90P) and c.551G>C (p.R184P) and in a normal hearing group lacking alterations in GJB2 (n = 50).
|
25085637 |
2015 |
|
rs80338950
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30.
|
20442751 |
2010 |
|
rs80338950
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
|
|
|