|
WAARDENBURG SYNDROME, TYPE 4A
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
WAARDENBURG SYNDROME, TYPE 4A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutation of the Sox10 gene leads to neural crest defects in the Dominant megacolon mouse mutant and to combined Waardenburg-Hirschsprung syndrome in humans.
|
9722528 |
1998 |
|
WAARDENBURG SYNDROME, TYPE 4A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here we show that patients from four families with WS4 have mutations in SOX10, whereas no mutation could be detected in patients with HSCR alone.
|
9462749 |
1998 |
|
WAARDENBURG SYNDROME, TYPE 4A
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Moreover, as mutations of the SOX10 transcription factor were previously described in Waardenburg-Hirschsprung disease, these results show that SOX10 mutations cause various types of neurocristopathy.
|
10441344 |
1999 |
|
WAARDENBURG SYNDROME, TYPE 4A
|
0.500 |
Biomarker
|
disease |
BEFREE |
Sox10(Dom)/+ mice exhibit variability of aganglionosis and hypopigmentation influenced by genetic background similar to that observed in WS4 patients.
|
10077527 |
1999 |
|
WAARDENBURG SYNDROME, TYPE 4A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Pax3 functions with Sox10 to activate transcription of c-RET, and SOX10 mutations result in Waardenburg-Hirschsprung syndrome.
|
11032856 |
2000 |
|
WAARDENBURG SYNDROME, TYPE 4A
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in SRY, SOX9 and SOX10 have been shown to be responsible for XY sex reversal, campomelic dysplasia and Waardenburg-Hirschsprung disease, respectively.
|
10798354 |
2000 |
|
WAARDENBURG SYNDROME, TYPE 4A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This gene has a remarkably similar primary structure and genomic organisation to the campomelic dysplasia gene SOX9 and the Waardenburg-Shah syndrome gene SOX10.
|
10684944 |
2000 |
|
WAARDENBURG SYNDROME, TYPE 4A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Taken together, our observations bring new and meaningful information concerning the molecular process that leads to a defective melanocyte development in WS4 patients with SOX10 mutations.
|
10938265 |
2000 |
|
WAARDENBURG SYNDROME, TYPE 4A
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
The extended spectrum of the WS4 phenotype is relevant to the brain expression of SOX10 during human embryonic and fetal development.
|
10762540 |
2000 |
|
WAARDENBURG SYNDROME, TYPE 4A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A SOX10 mutation was identified in an infant with Shah-Waardenburg's syndrome, and he showed persistent bowel malfunction.
|
11685702 |
2001 |
|
WAARDENBURG SYNDROME, TYPE 4A
|
0.500 |
Biomarker
|
disease |
BEFREE |
Moreover, haploinsufficiency of Sox10 results in neural crest defects that cause Waardenburg/Hirschsprung disease in humans.
|
11641219 |
2001 |
|
WAARDENBURG SYNDROME, TYPE 4A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations of SOX10 have been identified in patients with HD but only in those with Waardenburg-Shah syndrome.
|
11454798 |
2001 |
|
WAARDENBURG SYNDROME, TYPE 4A
|
0.500 |
Biomarker
|
disease |
BEFREE |
The observation that some WS4 patients present with myelination defects of the central and peripheral nervous systems correlates with the recent finding that P(0), a major component of the peripheral myelin, is another transcriptional target of SOX10.
|
11734543 |
2001 |
|
WAARDENBURG SYNDROME, TYPE 4A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In contrast with the SOX10 loss-of-function mutations causing only WS4, mutations associated with both peripheral and central dysmyelination may affect pathology through a dominant-negative mechanism.
|
12447940 |
2002 |
|
WAARDENBURG SYNDROME, TYPE 4A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SOX10 result in Waardenburg syndrome type 4.
|
12036907 |
2002 |
|
WAARDENBURG SYNDROME, TYPE 4A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A number of SOX10 mutations have been identified in WS4 patients who suffer from different extents of intestinal aganglionosis, pigmentation, and hearing abnormalities.
|
14523991 |
2003 |
|
WAARDENBURG SYNDROME, TYPE 4A
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in human Sox10 gene have also been linked with the occurrence of neurocristopathies in the Waardenburg-Shah syndrome type IV (WS-IV), for which the Sox10(Dom) mice serve as a murine model.
|
12789277 |
2003 |
|
WAARDENBURG SYNDROME, TYPE 4A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
SOX10 mutations contribute to syndromic HSCR cases and Sox10 alleles in mice exhibit aganglionosis and pigmentary anomalies typical of a subset of HSCR patients categorized as Waardenburg-Shah syndrome (WS4, OMIM 277580).
|
15843399 |
2005 |
|
WAARDENBURG SYNDROME, TYPE 4A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature.
|
16504559 |
2006 |
|
WAARDENBURG SYNDROME, TYPE 4A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The present phenotype and the genotype findings underline the wide spectrum of SOX10 gene implication in unusual type 4 Waardenburg syndrome patient.
|
18348267 |
2008 |
|
WAARDENBURG SYNDROME, TYPE 4A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here, we examine the otic phenotype of zebrafish sox10 mutants, a model for WS4.
|
19132125 |
2009 |
|
WAARDENBURG SYNDROME, TYPE 4A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SOX10 are associated with several neurocristopathies such as Waardenburg syndrome type IV (WS4), a congenital disorder characterized by the association of hearing loss, pigmentary abnormalities, and absence of ganglion cells in the myenteric and submucosal plexus of the gastrointestinal tract, also known as aganglionic megacolon or Hirschsprung disease (HSCR).
|
20130826 |
2010 |
|
WAARDENBURG SYNDROME, TYPE 4A
|
0.500 |
Biomarker
|
disease |
BEFREE |
The involvement of SOX10 and ZFHX1B in Waardenburg-Hirschsprung disease (hypopigmentation, deafness, and absence of enteric ganglia) and Mowat-Wilson syndrome (mental retardation, facial dysmorphy and variable congenital malformations including Hirschsprung disease) respectively, highlighted the importance of both transcription factors during enteric nervous system (ENS) development.
|
20206619 |
2010 |
|
WAARDENBURG SYNDROME, TYPE 4A
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In addition, the EDNRB, EDN3 and SOX10 genes were sequenced in order to identify the pathogenic mutation responsible for the WS4 observed in these patients.
|
21531202 |
2011 |