×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
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
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
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
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
1.000
GeneticVariation
disease
CLINVAR
Waardenburg syndrome: Novel mutations in a large Brazilian sample.
29407415
2018
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
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
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
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
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
1.000
GeneticVariation
disease
UNIPROT
EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.
28236341
2017
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
1.000
CausalMutation
disease
CLINVAR
Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF.
27473757
2016
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
1.000
Biomarker
disease
GENOMICS_ENGLAND
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.
27889061
2016
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
1.000
GeneticVariation
disease
BEFREE
Tietz syndrome and Waardenburg syndrome type 2A are allelic conditions caused by MITF mutations.
27604145
2016
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
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
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
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
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
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
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
1.000
GeneticVariation
disease
BEFREE
Our results indicate that MITF mutations are relatively common among Chinese WS2 patients.
24194866
2013
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
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
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
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
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
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
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
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
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
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
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
1.000
CausalMutation
disease
CLINVAR
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
22012259
2011
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
1.000
CausalMutation
disease
CLINVAR
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.
22080950
2011
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
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
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
1.000
Biomarker
disease
MGD
Novel ENU-induced eye mutations in the mouse: models for human eye disease.
11929848
2002
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
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
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
1.000
Biomarker
disease
MGD
Saturation mutagenesis for dominant eye morphological defects in the mouse Mus musculus.
10886015
2000
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
1.000
GeneticVariation
disease
BEFREE
Mutations of MITF in mice or humans with Waardenburg syndrome type 2 (WS2 ) often severely disrupt the bHLHZip domain, suggesting the importance of this structure.
10587587
2000