|
rs200089613
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The low prevalence of the allele HARS2 c.1439G>A p.(Arg480His) in the general population and its presence in three families with hearing loss, confirm the pathogenicity of this variant and illustrate the presentation of Perrault syndrome as nonsyndromic hearing loss in males and prepubertal females.
|
31827252 |
2020 |
|
rs121912557
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We established a humanized knock-in mouse model, Myo6-C442Y, to mimic the p.C442Y missense variant identified in human patients with autosomal dominant nonsyndromic hearing loss designated as DFNA22.
|
31103816 |
2019 |
|
rs1244688796
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe three homozygous nonsense mutations of KCNE1 segregating in families ascertained ostensibly for nonsyndromic deafness: c.50G>A (p.Trp17*), c.51G>A (p.Trp17*), and c.138C>A (p.Tyr46*).
|
30461122 |
2019 |
|
rs370564476
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have identified a <i>GRAP</i> variant (c.311A>T; p.Gln104Leu) cosegregating with autosomal recessive nonsyndromic deafness in two unrelated families.
|
30610177 |
2019 |
|
rs397508115
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe three homozygous nonsense mutations of KCNE1 segregating in families ascertained ostensibly for nonsyndromic deafness: c.50G>A (p.Trp17*), c.51G>A (p.Trp17*), and c.138C>A (p.Tyr46*).
|
30461122 |
2019 |
|
rs76737438
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe three homozygous nonsense mutations of KCNE1 segregating in families ascertained ostensibly for nonsyndromic deafness: c.50G>A (p.Trp17*), c.51G>A (p.Trp17*), and c.138C>A (p.Tyr46*).
|
30461122 |
2019 |
|
rs779124360
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe three homozygous nonsense mutations of KCNE1 segregating in families ascertained ostensibly for nonsyndromic deafness: c.50G>A (p.Trp17*), c.51G>A (p.Trp17*), and c.138C>A (p.Tyr46*).
|
30461122 |
2019 |
|
rs752672077
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a Dutch consanguineous family with recessively inherited nonsyndromic hearing impairment (HI), homozygosity mapping combined with whole-exome sequencing revealed a MPZL2 homozygous truncating variant, c.72del (p.Ile24Metfs<sup>∗</sup>22).
|
29961571 |
2018 |
|
rs756215789
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a Dutch consanguineous family with recessively inherited nonsyndromic hearing impairment (HI), homozygosity mapping combined with whole-exome sequencing revealed a MPZL2 homozygous truncating variant, c.72del (p.Ile24Metfs<sup>∗</sup>22).
|
29961571 |
2018 |
|
rs765136820
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A Novel p.G141R Mutation in <i>ILDR1</i> Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families.
|
29849566 |
2018 |
|
rs201294938
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9.
|
28099493 |
2017 |
|
rs202138002
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recently, it has been found that heterozygous mutations of P2X2 V60L and G353R can cause autosomal dominant nonsyndromic hearing loss.
|
29180951 |
2017 |
|
rs754786373
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our data indicated that the p.Arg2417His variant in DMXL2 is associated with dominant, nonsyndromic hearing loss and suggested an important role of DMXL2 in inner ear function.Genet Med advance online publication 22 September 2016.
|
27657680 |
2017 |
|
rs2274083
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The homozygote p.V27I/p.E114G variant of GJB2 is a putative indicator of nonsyndromic hearing loss in Chinese infants.
|
27063752 |
2016 |
|
rs2274084
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The homozygote p.V27I/p.E114G variant of GJB2 is a putative indicator of nonsyndromic hearing loss in Chinese infants.
|
27063752 |
2016 |
|
rs5756795
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The latter SNP lies just outside exon 8 and is highly correlated (r2 = 0.96) with the missense SNP rs5756795 in exon 7 of TRIOBP, a gene previously associated with prelingual nonsyndromic hearing loss.
|
27764096 |
2016 |
|
rs778568636
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The two sisters, who had either mild or severe high-frequency hearing loss, were compound heterozygous for two novel mutations (c.5674G>T [p.V1892F] and c.4212+1G>A) in LOXHD1, which is responsible for autosomal-recessive nonsyndromic hearing loss DFNB77.
|
26973026 |
2016 |
|
rs1283780488
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A homozygous missense mutation ([c.637G>T; p.Val213Phe]) is the underlying cause of nonsyndromic hearing loss (DFNB94) and compound heterozygous mutations ([c.969T>A; p.Tyr323*] + [c.1142A>G; p.Asn381Ser]) result in mitochondrial respiratory chain deficiency and Leigh syndrome, which is a neurodegenerative disease characterized by symmetric, bilateral lesions in the basal ganglia, thalamus, and brain stem.
|
25807530 |
2015 |
|
rs565224393
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A homozygous missense mutation ([c.637G>T; p.Val213Phe]) is the underlying cause of nonsyndromic hearing loss (DFNB94) and compound heterozygous mutations ([c.969T>A; p.Tyr323*] + [c.1142A>G; p.Asn381Ser]) result in mitochondrial respiratory chain deficiency and Leigh syndrome, which is a neurodegenerative disease characterized by symmetric, bilateral lesions in the basal ganglia, thalamus, and brain stem.
|
25807530 |
2015 |
|
rs759504704
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A homozygous missense mutation ([c.637G>T; p.Val213Phe]) is the underlying cause of nonsyndromic hearing loss (DFNB94) and compound heterozygous mutations ([c.969T>A; p.Tyr323*] + [c.1142A>G; p.Asn381Ser]) result in mitochondrial respiratory chain deficiency and Leigh syndrome, which is a neurodegenerative disease characterized by symmetric, bilateral lesions in the basal ganglia, thalamus, and brain stem.
|
25807530 |
2015 |
|
rs1185695012
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, some individuals from the Palestinian family also harbored a novel heterozygous truncating variant (c.1267C>T/p.R423X) in the DFNB31 gene, which is involved in autosomal recessive nonsyndromic deafness type DFNB31 and Usher syndrome type II.
|
24194196 |
2014 |
|
rs199606180
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This finding further supports the premise that the MYO7A gene is responsible for two distinct diseases and gives evidence that the p.P1887L mutation in a homozygous state may be responsible for nonsyndromic hearing loss.
|
24194196 |
2014 |
|
rs397517255
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, some individuals from the Palestinian family also harbored a novel heterozygous truncating variant (c.1267C>T/p.R423X) in the DFNB31 gene, which is involved in autosomal recessive nonsyndromic deafness type DFNB31 and Usher syndrome type II.
|
24194196 |
2014 |
|
rs483352866
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a family segregating progressive autosomal-dominant nonsyndromic hearing loss (NSHL), we used OtoSCOPE® to exclude mutations in known deafness genes and then performed segregation mapping and whole-exome sequencing to identify a unique variant, p.Ser178Leu, in TBC1D24 that segregates with the hearing loss phenotype.
|
24729539 |
2014 |
|
rs56002719
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The other two rare variants, p.Glu385Lys and p.Glu776Val, did not segregate with HI in the families.
|
24909696 |
2014 |