Waardenburg Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study, we reported a rare Waardenburg syndrome simplex family in which a pair of WS parents gave birth to a child with double heterozygous mutations of MITF and PAX3.
|
22320238 |
2013 |
Waardenburg Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Genes responsible for syndromic forms of hearing loss include the COL4A5 gene in Alport syndrome and the PAX3 and MITF genes in Waardenburg syndrome.
|
8630497 |
1996 |
Waardenburg Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The mutational spectrum in Waardenburg syndrome.
|
8589691 |
1995 |
Waardenburg Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutation screening of six WS-associated genes detected PAX3 mutations in 6 (86%) of the 7 WS1 probands.
|
27759048 |
2016 |
Waardenburg Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Based on the molecular defect of Splotch, an established mouse model for NTD, and on the clinical association between NTD and Waardenburg syndrome (WS), mutations in the PAX3 gene can be expected to act as factors predisposing to human NTD.
|
7897628 |
1995 |
Waardenburg Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation of PAX3 in a Chinese family with Waardenburg syndrome.
|
16971891 |
2006 |
Waardenburg Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.
|
7981674 |
1994 |
Waardenburg Syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Identification of a novel nonsense mutation on the Pax3 gene in ENU-derived white belly spotting mice and its genetic interaction with c-Kit.
|
20095975 |
2010 |
Waardenburg Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Known mutations in PAX3 are etiologically associated with Waardenburg syndrome and syndromic neural tube defects (NTDs).
|
17149730 |
2007 |
Waardenburg Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we describe a further three PAX3 mutations which cause WS; one alters the octapeptide motif plus the presumed homeodomain; a second alters all three elements and the third alters the paired box alone.
|
8490648 |
1993 |
Waardenburg Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of the murine Pax3 and human PAX3 genes cause deficiencies in these developmental lineages and result in the Splotch phenotype and Waardenburg syndrome, respectively.
|
29730428 |
2018 |
Waardenburg Syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Mutation screening of six WS-associated genes detected PAX3 mutations in 6 (86%) of the 7 WS1 probands.
|
27759048 |
2016 |
Waardenburg Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome.
|
1347149 |
1992 |
Waardenburg Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability: a murine model of Waardenburg syndrome variation.
|
8786127 |
1996 |
Waardenburg Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Epistatic relationship between Waardenburg syndrome genes MITF and PAX3.
|
9500554 |
1998 |
Waardenburg Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Point mutations in PAX3 have been identified in more than 90% of affected individuals with WS Type 1/WS Type 3.
|
17627390 |
2007 |
Waardenburg Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Subnuclear localization and mobility are key indicators of PAX3 dysfunction in Waardenburg syndrome.
|
18325909 |
2008 |
Waardenburg Syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Pigmentation PAX-ways: the role of Pax3 in melanogenesis, melanocyte stem cell maintenance, and disease.
|
18983540 |
2008 |
Waardenburg Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium.
|
1349198 |
1992 |
Waardenburg Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).
|
8447316 |
1993 |
Waardenburg Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Evaluation of heterogeneity in location scores obtained by multilocus analysis indicated that WS is linked to PAX3 in 60% of all WS families and in 100% of WS1 families.None of the WS2 families were linked.
|
7942851 |
1994 |
Waardenburg Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Rare variants in PAX3 are known to cause Waardenburg syndrome, which involves deafness, pigmentary abnormalities, and facial characteristics including a broad nasal bridge.
|
22341974 |
2012 |
Waardenburg Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutation in PAX3 causes Waardenburg syndrome, and craniofacial-deafness-hand syndrome.
|
18627422 |
2008 |
Waardenburg Syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
This is the first report of genetically diagnosed case of WS PAX3 c.598C>T nonsense mutation in Chinese ethnic origin by WES and <i>in silico</i> functional prediction methods.
|
28690861 |
2017 |
Waardenburg Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently, we identified some novel WS-associated mutations in PAX3 and SOX10 in a cohort of Chinese WS patients.
|
21965087 |
2012 |