×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
WAARDENBURG SYNDROME, TYPE IIA
1.000
GeneticVariation
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
WAARDENBURG SYNDROME, TYPE IIA
1.000
GeneticVariation
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
WAARDENBURG SYNDROME, TYPE IIA
1.000
GeneticVariation
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
WAARDENBURG SYNDROME, TYPE IIA
1.000
GeneticVariation
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
WAARDENBURG SYNDROME, TYPE IIA
1.000
GeneticVariation
BEFREE
Tietz syndrome and Waardenburg syndrome type 2A are allelic conditions caused by MITF mutations.
27604145
2016
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
WAARDENBURG SYNDROME, TYPE IIA
1.000
GeneticVariation
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
WAARDENBURG SYNDROME, TYPE IIA
1.000
GeneticVariation
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
WAARDENBURG SYNDROME, TYPE IIA
1.000
GeneticVariation
BEFREE
Our results indicate that MITF mutations are relatively common among Chinese WS2 patients.
24194866
2013
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
WAARDENBURG SYNDROME, TYPE IIA
1.000
GeneticVariation
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
WAARDENBURG SYNDROME, TYPE IIA
1.000
GeneticVariation
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
WAARDENBURG SYNDROME, TYPE IIA
1.000
Biomarker
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
WAARDENBURG SYNDROME, TYPE IIA
1.000
GeneticVariation
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
WAARDENBURG SYNDROME, TYPE IIA
1.000
GeneticVariation
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
WAARDENBURG SYNDROME, TYPE IIA
1.000
GeneticVariation
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
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
WAARDENBURG SYNDROME, TYPE IIA
1.000
GeneticVariation
BEFREE
Approximately 20% of WS2 cases are associated with mutations in the gene encoding microphthalmia-associated transcription factor (MITF ).
10400990
1999
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
WAARDENBURG SYNDROME, TYPE IIA
1.000
GeneticVariation
BEFREE
Since mutations in the MITF gene are responsible for some instances of WS2 , we screened for mutations in one of the WS2-OA families and discovered a 1 bp deletion in exon 8 of MITF.
9158138
1997
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
WAARDENBURG SYNDROME, TYPE IIA
1.000
GeneticVariation
BEFREE
MITF mutations occur in patients with Waardenburg syndrome type 2, a disorder associated with melanocyte abnormalities.
8782819
1996
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
WAARDENBURG SYNDROME, TYPE IIA
1.000
GeneticVariation
BEFREE
In this report, we have identified two novel point mutations in the MITF gene in affected individuals from two different families with WS2A .
8659547
1996
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
Tietz syndrome
0.940
GeneticVariation
BEFREE
Tietz syndrome and Waardenburg syndrome type 2A are allelic conditions caused by MITF mutations.
27604145
2016
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
Tietz syndrome
0.940
GeneticVariation
BEFREE
Mutations in the MITF have been found in patients with the dominantly inherited hypopigmentation and deafness syndromes Waardenburg syndrome type 2A (WS2A) and Tietz syndrome (TS ).
23787126
2013
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
Tietz syndrome
0.940
GeneticVariation
BEFREE
On rare occasions, mutations in MITF lead to Tietz syndrome (TS ), which is characterized by a severe WS2 phenotype.
20485200
2010
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
Tietz syndrome
0.940
GeneticVariation
BEFREE
This family was reascertained and a missense mutation was found in the basic region of the MITF gene in family members with Tietz syndrome .
10851256
2000
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
Waardenburg Syndrome Type 2
0.800
GeneticVariation
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
Waardenburg Syndrome Type 2
0.800
GeneticVariation
BEFREE
Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.
29531335
2018
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
Waardenburg Syndrome Type 2
0.800
GeneticVariation
BEFREE
Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2 .
28356565
2017