|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Though heterozygous mutations in MITF are a major cause for Waardenburg syndrome type 2 (WS2), homozygous mutations in this gene and the associated phenotype have been rarely characterized.
|
30549420 |
2019 |
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The finding of an MITF variant fits well with the syndromic phenotype involving both depigmentation and an increased risk for deafness and corresponds to human Waardenburg syndrome type 2A.
|
30644113 |
2019 |
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Waardenburg syndrome: Novel mutations in a large Brazilian sample.
|
29407415 |
2018 |
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we identified a novel WS-associated mutation at the stop codon of MITF (p.X420Y) in a Chinese WS2 patient.
|
28356565 |
2017 |
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations of MITF cause Waardenburg syndrome type IIA, whose phenotypes include depigmentation due to melanocyte loss, whereas amplification or specific mutation of MITF can be an oncogenic event that is seen in a subset of familial or sporadic melanomas.
|
28263292 |
2017 |
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.
|
28236341 |
2017 |
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF.
|
27473757 |
2016 |
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.
|
27889061 |
2016 |
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tietz syndrome and Waardenburg syndrome type 2A are allelic conditions caused by MITF mutations.
|
27604145 |
2016 |
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.
|
27889061 |
2016 |
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Because mutations in MITF are causative of Waardenburg syndrome type 2 (WS2), we screened KITLG in suspected WS2-affected probands.
|
26522471 |
2015 |
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Here, we characterize the DNA-binding and transcription activation properties of 24 MITF mutations found in WS2A, TS and melanoma patients.
|
23787126 |
2013 |
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we characterize the DNA-binding and transcription activation properties of 24 MITF mutations found in WS2A, TS and melanoma patients.
|
23787126 |
2013 |
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our results indicate that MITF mutations are relatively common among Chinese WS2 patients.
|
24194866 |
2013 |
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations of MITF and its transactivator gene PAX3 are associated with Waardenburg syndrome type II (WS2) and type I (WS1), respectively.
|
22320238 |
2013 |
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.
|
23167872 |
2013 |
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Here, we characterize the DNA-binding and transcription activation properties of 24 MITF mutations found in WS2A, TS and melanoma patients.
|
23787126 |
2013 |
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we analyzed the in vitro activities of two recently identified WS2-associated MITF mutations (p.R217I and p.T192fsX18).
|
23098757 |
2012 |
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
Biomarker
|
disease |
BEFREE |
Thus, a novel compound heterozygous mutation, c.[742_743delAAinsT;746_747delCA] in MITF exon 8 was the key genetic reason for WS2 in this family, and a digenic effect of MITF and GJB2 genes may contribute to deafness of the proband.
|
22196401 |
2011 |
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
|
22012259 |
2011 |
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.
|
22080950 |
2011 |
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In contrast, the number and phenotype of MC in WS2/TS patients who also have an alteration in their MITF gene are unclear.
|
20485200 |
2010 |
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
Biomarker
|
disease |
MGD |
Novel ENU-induced eye mutations in the mouse: models for human eye disease.
|
11929848 |
2002 |
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The lack of mutation in MITF coding sequences in some WS2 patients suggests that unidentified factors controlling MITF expression might be involved.
|
11478782 |
2001 |
|
WAARDENBURG SYNDROME, TYPE IIA
|
1.000 |
Biomarker
|
disease |
MGD |
Saturation mutagenesis for dominant eye morphological defects in the mouse Mus musculus.
|
10886015 |
2000 |