|
rs104894403
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.
|
10369869 |
1999 |
|
rs72474224
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss.
|
12121355 |
2002 |
|
rs72474224
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Homozygosity for the V37I GJB2 mutation may be a more common pathogenic missense mutation in Asian populations, resulting in mild to moderate sensorineural hearing impairment.
|
23873582 |
2013 |
|
rs72474224
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We present two East Asian patients with sensorineural hearing loss (SNHL) and compound heterozygosity for the 235delC and V37I mutations in the GJB2 gene.
|
16952406 |
2006 |
|
rs72474224
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Our data indicate that slight/mild sensorineural hearing loss due to the GJB2 V37I mutation is common in people of Asian background.
|
16840571 |
2006 |
|
rs72474224
|
|
|
0.050 |
GeneticVariation |
BEFREE |
This study examines the pathogenicity of V37I by comparing the frequency of this allele in 40 patients with SNHL of Chinese and Caucasian descent with the frequency of the allele in 100 anonymized, ethnically matched controls.
|
17036313 |
2006 |
|
rs35887622
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.
|
10903123 |
2000 |
|
rs35887622
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In addition, we found three patients with compound p.M34T mutation also exhibiting mild to moderate SNHI.
|
22668073 |
2012 |
|
rs35887622
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.
|
11134236 |
2001 |
|
rs35887622
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Patients with M34T mutations and/or mild SNHL had a low risk of progression.
|
19235794 |
2009 |
|
rs80356529
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Importantly, our data provide the first evidence that a single, recurrent mutation in WFS1, p.A684V, may be a common cause of ADOA and SNHL, similar to the role played by the p.R445H mutation in OPA1.
|
21538838 |
2011 |
|
rs80356529
|
|
|
0.030 |
GeneticVariation |
BEFREE |
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.
|
16240368 |
2005 |
|
rs80356529
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation.
|
16158427 |
2005 |
|
rs121912557
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Heterozygous Myo6-C442Y mice recapitulated the progressive postlingual sensorineural deafness in human, thus providing a useful model for elucidating the role myosin VI plays in the mammalian auditory system.
|
31103816 |
2019 |
|
rs121912557
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The missense mutation of Cys(442) to Tyr of myosin VI causes progressive postlingual sensorineural deafness.
|
15123708 |
2004 |
|
rs10258719
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report.
|
24564331 |
2014 |
|
rs104894334
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, a recurrent missense mutation (A147T) within the aquaporin-2 gene was identified in a female patient with autosomal recessive NDI associated with sensorineural deafness.
|
10770218 |
2000 |
|
rs104894396
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs104894404
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs104894409
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further studies are required to determine the exact mechanism by which mutant (V84L), (V95M), and (R143W) Cx26 proteins, which are capable of forming functional homotypic junctional channels in N2A cells, cause the cochlear dysfunction and sensorineural deafness.
|
12562518 |
2003 |
|
rs104895564
|
|
|
0.010 |
GeneticVariation |
BEFREE |
On the other hand, some genetic mutations may lead to specific phenotype, as we have found a high prevalence of sensorineural hearing loss among p.R284X patients.
|
31820221 |
2019 |
|
rs1057517491
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The G45E mutation was not reported previously in Caucasian patients but was the third most common GJB2 mutation (16% of disease alleles) in Japanese patients with autosomal recessive non-syndromic HL.
|
15633193 |
2005 |
|
rs11096955
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Logistic regression demonstrated that the time since the onset of MD, Tumarkin crises, hearing stage and rs11096955 were independent factors influencing the risk of bilateral SNHL.
|
23370977 |
2013 |
|
rs111033196
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The present study suggests that (R127H) mutation associated with hereditary sensorineural deafness results in the formation of defective Cx26 gap junctions, which may lead to the malfunction of cochlear gap junctions and hearing loss.
|
12562518 |
2003 |
|
rs111033256
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel variant of SLC26A4 and first report of the c.716T>A variant in Iranian pedigrees with non-syndromic sensorineural hearing loss.
|
30077349 |
2019 |