|
rs11920109
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The difference in genotypes for the rs11920109 single nucleotide polymorphism between the sensorineural hearing loss groups and control groups showed no statistical significance.
|
30528655 |
2020 |
|
rs11928865
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To test the association between the single nucleotide polymorphisms rs11928865 and rs11920109 of the glutamate metabotropic receptor 7 with sensorineural hearing loss in adults of different age groups.
|
30528655 |
2020 |
|
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 |
|
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 |
|
rs28938175
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The Pro51Ser (P51S) COCH mutation is characterized by a late-onset bilateral sensorineural hearing loss (SNHL) and progressive vestibular deterioration.
|
30806805 |
2019 |
|
rs775097398
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Through genome sequencing, we identified a homozygous FOXF2 variant c.325A>T (p.I109F) in a child with profound sensorineural hearing loss (SNHL) associated with incomplete partition type I anomaly of the cochlea.
|
30561639 |
2019 |
|
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 |
|
rs1291519904
|
|
|
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 |
|
rs201650281
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis.
|
30252186 |
2018 |
|
rs35725509
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study represents the first confirmation of the rs35725509 variant in an independent family as a likely cause for the complex hearing loss phenotype (SNHL and ANSD) observed in this family dyad.
|
29671961 |
2018 |
|
rs745927136
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In humans, three unrelated patients have been reported: a patient with a homozygous missense mutation in SLC9A1, c.913G>A (p.Gly305Arg), which caused Lichtenstein-Knorr syndrome characterized by cerebellar ataxia and sensorineural hearing loss, a patient with compound heterozygous mutations, c.1351A>C (p.Ile451Leu) and c.1585C>T (p.His529Tyr), which caused a neuromuscular disorder, and a patient with de novo mutation, c.796A>C (p.Asn266His) which associated multiple anomalies.
|
30018422 |
2018 |
|
rs750188782
|
|
|
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 |
|
rs267606617
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Carbamazepine with the rare SNP allele of rs3909184 causing Stevens Johnson syndrome, and aminoglycosides with rs267606617 causing sensory neural deafness.
|
29202707 |
2017 |
|
rs761976067
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Heterozygous p.Tyr528His variant segregated completely with late-onset HI in which hearing deteriorated first at high frequencies and progressed to mid and low frequencies later in life.
|
28974383 |
2017 |
|
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 |
|
rs80338826
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ARTA plots showed that the most progressive type of SNHL was associated with the p.R702C, the p.R702H, and the p.R1165L substitutions, whereas the p.R1165C mutation correlated with a milder, nonprogressive type of SNHL than the p.R1165L.
|
26226608 |
2016 |
|
rs80338827
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ARTA plots showed that the most progressive type of SNHL was associated with the p.R702C, the p.R702H, and the p.R1165L substitutions, whereas the p.R1165C mutation correlated with a milder, nonprogressive type of SNHL than the p.R1165L.
|
26226608 |
2016 |
|
rs80338829
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ARTA plots showed that the most progressive type of SNHL was associated with the p.R702C, the p.R702H, and the p.R1165L substitutions, whereas the p.R1165C mutation correlated with a milder, nonprogressive type of SNHL than the p.R1165L.
|
26226608 |
2016 |
|
rs80338830
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ARTA plots showed that the most progressive type of SNHL was associated with the p.R702C, the p.R702H, and the p.R1165L substitutions, whereas the p.R1165C mutation correlated with a milder, nonprogressive type of SNHL than the p.R1165L.
|
26226608 |
2016 |
|
rs80338834
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ARTA for the p.E1841K mutation demonstrated a mild degree of SNHL with only mild progression, whereas the ARTA for the mutations at the nonhelical tailpiece did not show any substantial progression.
|
26226608 |
2016 |
|
rs876657776
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe 2 unrelated pedigrees with MTP and sensorineural hearing loss that segregate with a DIAPH1 R1213* variant predicting partial truncation of the DIAPH1 diaphanous autoregulatory domain.
|
26912466 |
2016 |
|
rs121908361
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This is the first reported case of a patient with the SLC26A4 gene mutation c.1105A > G (p.K369E) who had low-frequency sensorineural hearing loss.
|
25572613 |
2015 |
|
rs1322366495
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified two novel compound heterozygous missense mutations, c. 3125 A>G p.D1042G (maternal allele) and c.5981 A>G p.E1994G (paternal allele), in the PTPRQ gene, as the cause of recessively inherited sensorineural hearing loss in family 1572.
|
25919374 |
2015 |
|
rs1391331735
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we found two novel MYO15A mutations, c.3871C>T (p.L1291F) and c.5835T>G (p.Y1945X) in an affected individual carrying congenital profound sensorineural hearing loss (SNHL) through targeted resequencing of 134 known deafness genes.
|
26242193 |
2015 |
|
rs1471362858
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Then, we identified a novel EYA4 mutation in exon 8, c.511G>C; p.G171R, which segregated with postlingual and progressive autosomal dominant sensorineural hearing loss (SNHL).
|
25961296 |
2015 |