|
rs111033243
|
|
Congenital deafness
|
|
0.010 |
GeneticVariation
|
BEFREE |
In a case of bilateral congenital hearing loss we identified a rare, novel SLC26A4 exon 2 splice donor mutation (c.164+1delG) predicted to truncate pendrin in the first cytoplasmic domain, as a compound heterozygote with the pathogenic missense mutation c.1061T>C (p.354F>S; rs111033243).
|
27861301 |
2017 |
|
rs148388884
|
|
Congenital deafness
|
|
0.010 |
GeneticVariation
|
BEFREE |
The p.V37I (c.109G>A) mutation in the GJB2 gene is the common frequent cause of congenital deafness; however, its pathogenicity is debated.
|
27350192 |
2016 |
|
rs17215500
|
|
Congenital deafness
|
|
0.010 |
GeneticVariation
|
BEFREE |
These data extend the range of known KCNQ1 mutations associated with both recessive and dominant forms of congenital long QT syndrome, and demonstrate that the R518X allele may be associated with or without congenital deafness.
|
10737999 |
2000 |
|
rs2274083
|
|
Congenital deafness
|
|
0.010 |
GeneticVariation
|
BEFREE |
Although in vitro experiments using Xenopus oocytes have suggested that p.[V27I;E114G] disturbs the gap junction function of Cx26, the equal distribution of this complex allele in both deaf probands and hearing controls makes it a less likely cause of profound congenital deafness.
|
20201936 |
2010 |
|
rs28931594
|
|
Congenital deafness
|
|
0.010 |
GeneticVariation
|
BEFREE |
We have found a 148G-A transition in the GJB2 gene, resulting in an asp50-to-asn (D50N) substitution in a girl with congenital deafness.
|
26810281 |
2016 |
|
rs35887622
|
|
Congenital deafness
|
|
0.010 |
GeneticVariation
|
BEFREE |
The role of the allelic variant M34T in causing hereditary deafness remains controversial.
|
16849369 |
2006 |
|
rs72474224
|
|
Congenital deafness
|
|
0.010 |
GeneticVariation
|
BEFREE |
The p.V37I (c.109G>A) mutation in the GJB2 gene is the common frequent cause of congenital deafness; however, its pathogenicity is debated.
|
27350192 |
2016 |
|
rs72474224
|
|
Congenital deafness
|
|
0.010 |
GeneticVariation
|
BEFREE |
The p.V37I (c.109G>A) mutation in the GJB2 gene is the common frequent cause of congenital deafness; however, its pathogenicity is debated.
|
27350192 |
2016 |
|
rs74315289
|
|
Congenital deafness
|
|
0.010 |
GeneticVariation
|
BEFREE |
The patient was affected with congenital deafness, which urged us to analyze his gene for barttin, and a mutation G47R, which was previously reported, has been identified.
|
12574213 |
2003 |
|
rs753756017
|
|
Congenital deafness
|
|
0.010 |
GeneticVariation
|
BEFREE |
The authors describe here a 34-year-old patient with congenital hearing loss and a new diagnosis of sector RP who was found to have two novel compound heterozygous mutations in CDH23, including one missense (c.8530C > A; p.Pro2844Thr) and one splice-site (c.5820 + 5G > A) mutation.
|
26878454 |
2016 |
|
rs759552778
|
|
Congenital deafness
|
|
0.010 |
GeneticVariation
|
BEFREE |
Subpopulation screening of the coding exons and flanking introns of SMPX was further performed for 338 Chinese patients with nonsydromic HL by Sanger sequencing, and another two potential causative substitutions (c.238C>A and c.55A>G) in SMPX were identified in additional sporadic cases of congenital deafness.
|
28542515 |
2017 |
|
rs760352870
|
|
Congenital deafness
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we report a novel synonymous mutation (c.1803G>A, p.Lys601Lys), that caused aberrant splicing in two Korean family members who were clinically considered to have DFNB4, along with congenital hearing loss and dilated vestibular aqueducts (DVA).
|
23246836 |
2013 |