|
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Approximately 20% of WS2 cases are associated with mutations in the gene encoding microphthalmia-associated transcription factor (MITF).
|
10400990 |
1999 |
|
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 |
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 |
|
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 |
MITF mutations occur in patients with Waardenburg syndrome type 2, a disorder associated with melanocyte abnormalities.
|
8782819 |
1996 |
|
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 |
BEFREE |
Tietz syndrome and Waardenburg syndrome type 2A are allelic conditions caused by MITF mutations.
|
27604145 |
2016 |
|
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 |
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 |
|
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 |
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 |
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 |
|
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 |
GeneticVariation
|
disease |
UNIPROT |
The mutational spectrum in Waardenburg syndrome.
|
8589691 |
1995 |
|
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 |
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 |
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 |
|
Tietz syndrome
|
0.940 |
GeneticVariation
|
disease |
BEFREE |
On rare occasions, mutations in MITF lead to Tietz syndrome (TS), which is characterized by a severe WS2 phenotype.
|
20485200 |
2010 |
|
Tietz syndrome
|
0.940 |
GeneticVariation
|
disease |
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 |
|
Tietz syndrome
|
0.940 |
GeneticVariation
|
disease |
BEFREE |
Tietz syndrome and Waardenburg syndrome type 2A are allelic conditions caused by MITF mutations.
|
27604145 |
2016 |
|
Tietz syndrome
|
0.940 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Tietz syndrome
|
0.940 |
GeneticVariation
|
disease |
UNIPROT |
Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF.
|
10851256 |
2000 |