|
Waardenburg Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
MITF, a gene that is mutated in familial melanoma and Waardenburg syndrome, encodes multiple isoforms expressed from alternative promoters that share common coding exons but have unique amino termini.
|
31562697 |
2020 |
|
Waardenburg Syndrome
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
|
30612693 |
2019 |
|
Waardenburg Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this study, we identified a novel p.R223H mutation in MITF in a Chinese Han family with variable WS features.
|
30549420 |
2019 |
|
Waardenburg Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We performed a Sanger sequencing of coding regions of genes <i>PAX3, MITF, SOX10</i> and <i>SNAI2</i> in the patient with WS from a Yakut family living in the Sakha Republic.
|
31213145 |
2019 |
|
Waardenburg Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.
|
29531335 |
2018 |
|
Waardenburg Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.
|
29115496 |
2018 |
|
Waardenburg Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutation in the gene encoding microphthalmia-associated transcription factor (MITF) lead to Waardenburg syndrome 2 (WS2), an autosomal dominantly inherited syndrome with auditory-pigmentary abnormalities, which is clinically and genetically heterogeneous.
|
29531335 |
2018 |
|
Waardenburg Syndrome
|
0.700 |
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
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
While type I is tightly associated to PAX3 mutations, WS type II (WS2) remains partly enigmatic with mutations in known genes (MITF, SOX10) accounting for only 30% of the cases.
|
28236341 |
2017 |
|
Waardenburg Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis.
|
29094203 |
2017 |
|
Waardenburg Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Human Waardenburg syndrome 2A (WS2A) is a dominant hearing loss (HL) syndrome caused by mutations in the microphthalmia-associated transcription factor (MITF) gene.
|
29094203 |
2017 |
|
Waardenburg Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.
|
27889061 |
2016 |
|
Waardenburg Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Clinical re-evaluation of these probands shows that some of them have subtle syndromic findings, while none of them meets clinical criteria for the diagnosis of the associated syndrome (Waardenburg (SOX10 and MITF), Kallmann (CHD7 and SOX10), Noonan/LEOPARD (PTPN11), CHARGE (CHD7), or Kabuki (KMT2D).
|
27562378 |
2016 |
|
Waardenburg Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Clinical and genetic investigation of families with type II Waardenburg syndrome.
|
26781036 |
2016 |
|
Waardenburg Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report.
|
27073475 |
2016 |
|
Waardenburg Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.
|
23787126 |
2013 |
|
Waardenburg Syndrome
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
This observation suggested that the expression level of MITF is closely correlated to the penetrance of WS, and variants in transcription regulator genes of MITF may modify the relevant clinical phenotypes.
|
22320238 |
2013 |
|
Waardenburg Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.
|
24194866 |
2013 |
|
Waardenburg Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Microphthalmia-associated transcription factor (MITF) gene mutations account for about 15% of WS type II (WS2) cases.
|
24194866 |
2013 |
|
Waardenburg Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.
|
22258527 |
2012 |
|
Waardenburg Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Binding of MITF to the M-box motif is mediated by an unusual nonpolar interaction by Ile212, a residue that is mutated in mice and humans with Waardenburg syndrome.
|
23207919 |
2012 |
|
Waardenburg Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Effect of the mutant microphthalmia-associated transcription factor found in Tietz syndrome on the in vitro development of mast cells.
|
20485200 |
2010 |
|
Waardenburg Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.
|
20478267 |
2010 |
|
Waardenburg Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutation of microphthalmia-associated transcription factor (MITF) is known to produce WS type IIA whereas mutations of either endothelin (EDN) or its receptor endothelin receptor B (EDNRB) produce WS type IV.
|
18039926 |
2008 |
|
Waardenburg Syndrome
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
[Mutation screening of MITF gene in patients with Waardenburg syndrome type 2].
|
18424413 |
2008 |