Popliteal pterygium syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Haploinsufficiency of IRF6 causes Van der Woude and popliteal pterygium syndrome, 2 syndromic forms of cleft lip and palate.
|
28898113 |
2018 |
Popliteal pterygium syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Variants in IRF6 can lead to Van der Woude syndrome and popliteal pterygium syndrome.
|
29913133 |
2018 |
Popliteal pterygium syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
IRF6 mutations cause Van der Woude Syndrome (VWS) and Popliteal Pterygium Syndrome.
|
27115562 |
2017 |
Popliteal pterygium syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing.
|
27834299 |
2017 |
Popliteal pterygium syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Van der Woude Syndrome and Popliteal pterygium syndrome are autosomal dominantly inherited disorders caused by heterozygous mutations in IRF6.
|
27286731 |
2016 |
Popliteal pterygium syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Rare variants in IRF6 can lead to Van der Woude syndrome (1/35,000 live births) and popliteal pterygium syndrome (1/300,000 live births).
|
26332872 |
2016 |
Popliteal pterygium syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These are similar to Bartsocas-Papas syndrome and popliteal pterygium syndrome (PPS) in humans, for which causative mutations have been documented in the RIPK4 and IRF6 (interferon regulatory factor 6) gene, respectively.
|
25430793 |
2015 |
Popliteal pterygium syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in IRF6 cause popliteal pterygium syndrome (PPS) while homozygous mutations in RIPK4 or CHUK (IKKA) cause the more severe Bartsocas-Papas syndrome (BPS) and Cocoon syndrome, respectively.
|
25691407 |
2015 |
Popliteal pterygium syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndrome and contribute to nonsyndromic cleft lip phenotypes but have not previously been associated with a PRS phenotype.
|
25441681 |
2015 |
Popliteal pterygium syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We screened the IRF6 gene in eight families with clinical recognition of Van der Woude syndrome and popliteal pterygium syndrome.
|
25489771 |
2015 |
Popliteal pterygium syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions.
|
25784454 |
2015 |
Popliteal pterygium syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.
|
25548624 |
2014 |
Popliteal pterygium syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.
|
24360809 |
2014 |
Popliteal pterygium syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
IRF6 gene mutation was detected in six of the seven new VWS/PPS families.
|
23394314 |
2014 |
Popliteal pterygium syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate.
|
23394314 |
2014 |
Popliteal pterygium syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases.
|
23154523 |
2013 |
Popliteal pterygium syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although mutations causing Van der Woude syndrome or popliteal pterygium syndrome were nonrandomly distributed with significantly increased frequencies in the DNA-binding domain (P = 0.0001), variants found in controls were rare and evenly distributed in IRF6.
|
23154523 |
2013 |
Popliteal pterygium syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
EEC syndrome-like phenotype in a patient with an IRF6 mutation.
|
22488974 |
2012 |
Popliteal pterygium syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
This supports the idea that the R84 residue in the DNA binding domain of IRF6 is a mutational hot spot for PPS.
|
20803643 |
2010 |
Popliteal pterygium syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
This supports the idea that the R84 residue in the DNA binding domain of IRF6 is a mutational hot spot for PPS.
|
20803643 |
2010 |
Popliteal pterygium syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.
|
21045959 |
2010 |
Popliteal pterygium syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This supports the idea that the R84 residue in the DNA binding domain of IRF6 is a mutational hot spot for PPS.
|
20803643 |
2010 |
Popliteal pterygium syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified mutations in interferon regulatory factor 6 exons in 68% of families in both Van der Woude collections and in 97% of families with popliteal pterygium syndrome.
|
19282774 |
2009 |
Popliteal pterygium syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
In the current investigation, we have determined the sequence to which IRF6 binds and used this sequence to analyse the effect of VWS- and PPS-associated mutations in the DNA-binding domain of IRF6.
|
19036739 |
2009 |
Popliteal pterygium syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
In the current investigation, we have determined the sequence to which IRF6 binds and used this sequence to analyse the effect of VWS- and PPS-associated mutations in the DNA-binding domain of IRF6.
|
19036739 |
2009 |