|
rs104894402
|
|
Keratoderma, Palmoplantar
|
|
0.050 |
GeneticVariation
|
BEFREE |
HeLa cells stably expressing wild type Cx26 were transiently transfected to co-express nine individual dominant Cx26 mutants; six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q, and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q, and R75W).
|
21040787 |
2011 |
|
rs104894402
|
|
Keratoderma, Palmoplantar
|
|
0.050 |
GeneticVariation
|
BEFREE |
HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching).
|
20096356 |
2010 |
|
rs104894402
|
|
Keratoderma, Palmoplantar
|
|
0.050 |
GeneticVariation
|
BEFREE |
In conclusion, the simultaneous occurrence of a GJB2 mutation in a mother and daughter suggests that R75W mutation cause autosomal dominant hearing loss presenting with palmoplantar keratoderma.
|
20890442 |
2010 |
|
rs104894402
|
|
Keratoderma, Palmoplantar
|
|
0.050 |
GeneticVariation
|
BEFREE |
Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene.
|
20583176 |
2010 |
|
rs104894402
|
|
Keratoderma, Palmoplantar
|
|
0.050 |
GeneticVariation
|
BEFREE |
However, the R75W mutation was also observed in a control individual without PPK and unknown hearing status.
|
12372058 |
2002 |
|
rs28931593
|
|
Keratoderma, Palmoplantar
|
|
0.050 |
GeneticVariation
|
BEFREE |
Our findings provide further evidence of a correlation between the p.R75Q mutation in Cx26 and a syndromic hearing impairment with palmoplantar keratoderma.
|
24975403 |
2014 |
|
rs28931593
|
|
Keratoderma, Palmoplantar
|
|
0.050 |
GeneticVariation
|
BEFREE |
HeLa cells stably expressing wild type Cx26 were transiently transfected to co-express nine individual dominant Cx26 mutants; six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q, and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q, and R75W).
|
21040787 |
2011 |
|
rs28931593
|
|
Keratoderma, Palmoplantar
|
|
0.050 |
GeneticVariation
|
BEFREE |
HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching).
|
20096356 |
2010 |
|
rs28931593
|
|
Keratoderma, Palmoplantar
|
|
0.050 |
GeneticVariation
|
BEFREE |
Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene.
|
20583176 |
2010 |
|
rs28931593
|
|
Keratoderma, Palmoplantar
|
|
0.050 |
GeneticVariation
|
BEFREE |
Interestingly, the novel R75Q mutation affects the same amino acid residue as described recently in a small family (R75W) with profound prelingual hearing loss and PPK.
|
12372058 |
2002 |
|
rs104894404
|
|
Keratoderma, Palmoplantar
|
|
0.030 |
GeneticVariation
|
BEFREE |
HeLa cells stably expressing wild type Cx26 were transiently transfected to co-express nine individual dominant Cx26 mutants; six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q, and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q, and R75W).
|
21040787 |
2011 |
|
rs104894404
|
|
Keratoderma, Palmoplantar
|
|
0.030 |
GeneticVariation
|
BEFREE |
HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching).
|
20096356 |
2010 |
|
rs104894404
|
|
Keratoderma, Palmoplantar
|
|
0.030 |
GeneticVariation
|
BEFREE |
To date, the following mutations have been identified which lead to the Palmoplantar Keratoderma syndrome with deafness; Gly59Ala, Gly59Arg, His73Arg, Arg75Trp, and Arg75Gln.
|
20583176 |
2010 |
|
rs750188782
|
|
Keratoderma, Palmoplantar
|
|
0.030 |
GeneticVariation
|
BEFREE |
HeLa cells stably expressing wild type Cx26 were transiently transfected to co-express nine individual dominant Cx26 mutants; six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q, and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q, and R75W).
|
21040787 |
2011 |
|
rs750188782
|
|
Keratoderma, Palmoplantar
|
|
0.030 |
GeneticVariation
|
BEFREE |
HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching).
|
20096356 |
2010 |
|
rs750188782
|
|
Keratoderma, Palmoplantar
|
|
0.030 |
GeneticVariation
|
BEFREE |
To date, the following mutations have been identified which lead to the Palmoplantar Keratoderma syndrome with deafness; Gly59Ala, Gly59Arg, His73Arg, Arg75Trp, and Arg75Gln.
|
20583176 |
2010 |
|
rs104894403
|
|
Keratoderma, Palmoplantar
|
|
0.020 |
GeneticVariation
|
BEFREE |
As D66H segregated with the skin disease, it is likely to underlie the palmoplantar keratoderma.
|
10757647 |
2000 |
|
rs104894403
|
|
Keratoderma, Palmoplantar
|
|
0.020 |
GeneticVariation
|
BEFREE |
As D66H segregated with the skin disease, it is likely to underlie the palmoplantar keratoderma.
|
10888284 |
2000 |
|
rs104894406
|
|
Keratoderma, Palmoplantar
|
|
0.020 |
GeneticVariation
|
BEFREE |
HeLa cells stably expressing wild type Cx26 were transiently transfected to co-express nine individual dominant Cx26 mutants; six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q, and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q, and R75W).
|
21040787 |
2011 |
|
rs104894406
|
|
Keratoderma, Palmoplantar
|
|
0.020 |
GeneticVariation
|
BEFREE |
HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching).
|
20096356 |
2010 |
|
rs80338950
|
|
Keratoderma, Palmoplantar
|
|
0.020 |
GeneticVariation
|
BEFREE |
HeLa cells stably expressing wild type Cx26 were transiently transfected to co-express nine individual dominant Cx26 mutants; six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q, and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q, and R75W).
|
21040787 |
2011 |
|
rs80338950
|
|
Keratoderma, Palmoplantar
|
|
0.020 |
GeneticVariation
|
BEFREE |
HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching).
|
20096356 |
2010 |
|
rs121912968
|
|
Keratoderma, Palmoplantar
|
|
0.010 |
GeneticVariation
|
BEFREE |
We have examined the functional characteristics of two human mutations, Cx26-H73R and Cx26-S183F, causing palmoplantar keratoderma (PPK) and deafness.
|
26763442 |
2016 |
|
rs28931595
|
|
Keratoderma, Palmoplantar
|
|
0.010 |
GeneticVariation
|
BEFREE |
HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q and R75W), individually or together with Cx30, were analyzed by immunocytochemistry, co-immunoprecipitation, and functional assays (scrape-loading and/or fluorescence recovery after photobleaching).
|
20096356 |
2010 |
|
rs879253741
|
|
Keratoderma, Palmoplantar
|
|
0.010 |
GeneticVariation
|
BEFREE |
The p.Lys22Asn GJB2 mutation causes a dominant form of hearing loss associated with variable expression of palmoplantar keratoderma, representing a model of full penetrance, with an age-dependent effect on the phenotype.
|
28872160 |
2017 |