Van der Woude syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Rare mutations in IRF6 and GRHL3 cause Van der Woude syndrome, an autosomal dominant orofacial clefting disorder.
|
28732181 |
2017 |
Van der Woude syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
The antecedent member of this family, Drosophila grainyhead ( grh), is required for head skeleton development in fruit flies, loss or mutation of Grhl family members in mouse and zebrafish models leads to defects of both maxilla and mandible, and recently, mutations in human GRHL3 have been shown to cause or contribute to both syndromic (Van Der Woude syndrome) and nonsyndromic palatal clefts.
|
28697314 |
2017 |
Van der Woude syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Significantly, we also report the identification of 2 unique missense mutations in the NME proteins in patients with CLP (NME1 R18Q in an IRF6 and GRHL3 mutation-negative patient with van der Woude syndrome and NME2 G71V in a patient with nonsyndromic CLP).
|
28767310 |
2017 |
Van der Woude syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Grainyhead-like-3 (GRHL3) was recently identified as the second gene that, when mutated, can leads to Van der Woude syndrome, which is characterized by orofacial clefts (OFC) and lower lip pits.
|
27459192 |
2016 |
Van der Woude syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, IRF6 regulates GRHL3 and rare variants in this downstream target can also lead to Van der Woude syndrome.
|
26332872 |
2016 |
Van der Woude syndrome
|
0.790 |
Biomarker
|
disease |
BEFREE |
Mutations in IRF6 (Interferon Regulatory Factor 6) and GRHL3 (Grainyhead-like 3) cause Van der Woude syndrome, which includes CL/P.
|
26692521 |
2016 |
Van der Woude syndrome
|
0.790 |
Biomarker
|
disease |
BEFREE |
Recently, GRHL3 was identified as another VWS causative gene.
|
27129939 |
2016 |
Van der Woude syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
This is important for genetic counseling: given that VWS is rare compared to nsCPO, our data suggest that dominant GRHL3 mutations are more likely to cause nonsyndromic than syndromic CPO.
|
27018475 |
2016 |
Van der Woude syndrome
|
0.790 |
GermlineCausalMutation
|
disease |
ORPHANET |
According to a zebrafish-based assay, the disease-associated GRHL3 mutations abrogated periderm development and were consistent with a dominant-negative effect, in contrast to haploinsufficiency seen in most VWS cases caused by IRF6 mutations.
|
24360809 |
2014 |
Van der Woude syndrome
|
0.790 |
GeneticVariation
|
disease |
BEFREE |
According to a zebrafish-based assay, the disease-associated GRHL3 mutations abrogated periderm development and were consistent with a dominant-negative effect, in contrast to haploinsufficiency seen in most VWS cases caused by IRF6 mutations.
|
24360809 |
2014 |
Van der Woude syndrome
|
0.790 |
Biomarker
|
disease |
MGD |
According to a zebrafish-based assay, the disease-associated GRHL3 mutations abrogated periderm development and were consistent with a dominant-negative effect, in contrast to haploinsufficiency seen in most VWS cases caused by IRF6 mutations.
|
24360809 |
2014 |
Van der Woude syndrome
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Van der Woude syndrome 2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.
|
24360809 |
2014 |
Van der Woude syndrome 2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Van der Woude syndrome 2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Van der Woude syndrome 2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Van der Woude syndrome 2
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Cleft Soft Palate
|
0.400 |
SusceptibilityMutation
|
disease |
ORPHANET |
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.
|
27018475 |
2016 |
Cleft Soft Palate
|
0.400 |
SusceptibilityMutation
|
disease |
ORPHANET |
A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.
|
27018472 |
2016 |
VAN DER WOUDE SYNDROME 1
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.
|
24360809 |
2014 |
Cleft upper lip
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Cleft upper lip
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
Cleft Soft Palate
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
VAN DER WOUDE SYNDROME 1
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Neural Tube Defects
|
0.370 |
GeneticVariation
|
group |
BEFREE |
To investigate the relationship between common genetic variants of GRHL3 and the risk for NTDs, we performed a case-control study and a case-parent triad/control study.
|
31332962 |
2019 |