rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
0.740
GeneticVariation
BEFREE
That said, the Cx30 p.Ala88Val (A88V ) mutant causes Clouston syndrome , but not hearing loss.
30559251
2019
rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hearing Loss, High-Frequency
0.010
GeneticVariation
BEFREE
Here, we report that the Cx30-A88V mutant, despite being toxic to inner ear-derived HEI-OC1 cells, conferred remarkable long-term protection against age-related high frequency hearing loss in Cx30<sup>A88V/A88V</sup> mice.
30559251
2019
rs577509855
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
hearing impairment
0.010
GeneticVariation
BEFREE
Targeted exome sequencing further identified the causal mutations in the remaining seven families: CIB2:c.97C > T; p.(Arg33*) , MYO7A:c.470+1G > A; p.(?), and SLC26A4:c.410C > T; p.(Ser137Leu) biallelic mutations in two families each, and a TECTA:c.2743 A > G; p.(Ile915Val) monoallelic mutation in the only family with autosomal dominant transmission of the HI .
30055715
2018
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
T
0.830
CausalMutation
CLINVAR
Immune system disturbances in Clouston syndrome.
26551294
2016
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
T
0.830
CausalMutation
CLINVAR
[A gene study of a family with hidrotic ectodermal dysplasia].
27817781
2016
rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
A
0.740
CausalMutation
CLINVAR
A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.
27137747
2016
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Deafness, Autosomal Dominant 3B
T
0.700
CausalMutation
CLINVAR
Immune system disturbances in Clouston syndrome.
26551294
2016
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Deafness, Autosomal Dominant 3B
T
0.700
CausalMutation
CLINVAR
[A gene study of a family with hidrotic ectodermal dysplasia].
27817781
2016
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
T
0.700
CausalMutation
CLINVAR
[A gene study of a family with hidrotic ectodermal dysplasia].
27817781
2016
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
T
0.700
CausalMutation
CLINVAR
Immune system disturbances in Clouston syndrome.
26551294
2016
rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
A
0.700
CausalMutation
CLINVAR
A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.
27137747
2016
rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Deafness, Autosomal Dominant 3B
A
0.700
CausalMutation
CLINVAR
A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.
27137747
2016
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
0.830
GeneticVariation
BEFREE
The other case presented is that of a family with Clouston syndrome (caused by p.Gly11Arg mutation in GJB6), who are the first reported patients of Polish origin suffering from this disorder.
25575739
2015
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
T
0.830
CausalMutation
CLINVAR
A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.
24514865
2014
rs104894416
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
0.830
GeneticVariation
BEFREE
The loss-of-function V37E mutant associated with Clouston syndrome or keratitis-ichthyosis-deafness syndrome was retained in the endoplasmic reticulum and significantly induced apoptosis.
24522190
2014
rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
0.740
GeneticVariation
BEFREE
The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice.
24685692
2014
rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
0.740
GeneticVariation
BEFREE
Lastly, the A88V mutant, which is linked to the development of Clouston syndrome , also significantly induced apoptosis but through an endoplasmic-reticulum-independent mechanism.
24522190
2014
rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
A
0.740
CausalMutation
CLINVAR
The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice.
24685692
2014
rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Hidrotic Ectodermal Dysplasia
A
0.740
CausalMutation
CLINVAR
Lastly, the A88V mutant, which is linked to the development of Clouston syndrome , also significantly induced apoptosis but through an endoplasmic-reticulum-independent mechanism.
24522190
2014
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Deafness, Autosomal Dominant 3B
T
0.700
CausalMutation
CLINVAR
A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.
24514865
2014
rs104894415
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
T
0.700
CausalMutation
CLINVAR
A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.
24514865
2014
rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
A
0.700
CausalMutation
CLINVAR
Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies.
24522190
2014
rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Deafness, Autosomal Dominant 3B
A
0.700
CausalMutation
CLINVAR
Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies.
24522190
2014
rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
A
0.700
CausalMutation
CLINVAR
The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice.
24685692
2014
rs28937872
×
Entrez Id:
10804
Gene Symbol:
GJB6
GJB6
Deafness, Autosomal Dominant 3B
A
0.700
CausalMutation
CLINVAR
The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice.
24685692
2014