Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
|
0.930 |
GeneticVariation
|
disease |
BEFREE |
Most PCWH-associated SOX10 mutations result in premature termination codons (PTCs), for which the molecular mechanism has recently been delineated.
|
17855451 |
2007 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.
|
21898658 |
2011 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The SOX10/Sox10 gene from human and mouse: sequence, expression, and transactivation by the encoded HMG domain transcription factor.
|
9760192 |
1998 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
|
0.930 |
GeneticVariation
|
disease |
BEFREE |
We present a 4-year-old girl with the PCWH phenotype associated with a de novo nonsense mutation (S384X) in SOX10.
|
16504559 |
2006 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
|
0.930 |
Biomarker
|
disease |
MGD |
Disrupted SOX10 function causes spongiform neurodegeneration in gray tremor mice.
|
25399070 |
2015 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.
|
10762540 |
2000 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.
|
15004559 |
2004 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.
|
21898658 |
2011 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.
|
10762540 |
2000 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.
|
21898658 |
2011 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis.
|
28390600 |
2017 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation.
|
19208381 |
2009 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
|
0.930 |
GermlineCausalMutation
|
disease |
ORPHANET |
Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain.
|
24311220 |
2014 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
|
0.930 |
Biomarker
|
disease |
CTD_human |
|
|
|
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Interestingly, neurological phenotypes reminiscent of that observed in WS4 (PCWH syndrome [peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, WS, and Hirschsprung disease]) were observed in some WS2-affected patients with SOX10 deletions.
|
17999358 |
2007 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
|
0.930 |
GeneticVariation
|
disease |
BEFREE |
We suggest that hypoganglionosis can be a variant intestinal manifestation associated with PCWH and that hypoganglionosis and aganglionosis may share the same pathoetiological mechanism mediated by SOX10 mutations.
|
29681101 |
2018 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
|
0.930 |
GermlineCausalMutation
|
disease |
ORPHANET |
Pediatric case report: clinical profile of a patient with PCWH with p.Q377X nonsense mutation in the SOX10 gene.
|
22963253 |
2012 |
Waardenburg Syndrome, Type 4c
|
0.900 |
Biomarker
|
disease |
CLINGEN |
A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV.
|
18348274 |
2008 |
Waardenburg Syndrome, Type 4c
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model.
|
9425902 |
1998 |
Waardenburg Syndrome, Type 4c
|
0.900 |
Biomarker
|
disease |
CLINGEN |
Direct regulation of the Microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2.
|
10973953 |
2000 |
Waardenburg Syndrome, Type 4c
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.
|
21898658 |
2011 |
Waardenburg Syndrome, Type 4c
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Waardenburg Syndrome, Type 4c
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The SOX10/Sox10 gene from human and mouse: sequence, expression, and transactivation by the encoded HMG domain transcription factor.
|
9760192 |
1998 |
Waardenburg Syndrome, Type 4c
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Third World aid.
|
2364338 |
1990 |