Greig cephalopolysyndactyly syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
A robust gene-phenotype relationship between GLI3 and Greig cephalopolysyndactyly syndrome and Pallister-Hall syndrome has been well elucidated, and less is known about GLI3 mutation-caused isolated polydactyly.
|
30562203 |
2019 |
Greig cephalopolysyndactyly syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Therefore, functional cDNA analysis confirmed that the haploinsufficiency of the GLI3 is the cause of GCPS in the affected family members.
|
31325247 |
2019 |
Greig cephalopolysyndactyly syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly.
|
31115189 |
2019 |
Greig cephalopolysyndactyly syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in different domains of the GLI3 gene underlie several congenital diseases including Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS).
|
29368652 |
2018 |
Greig cephalopolysyndactyly syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.
|
26508445 |
2016 |
Greig cephalopolysyndactyly syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.
|
27231705 |
2016 |
Greig cephalopolysyndactyly syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The present study reports two cases: first, a familial case of Greig Cephalopolysyndactyly Syndrome (GCPS); the second is a sporadic case with both postaxial polydactyly (PAP) type A and B. Resequencing of GLI3 gene reveals a previously reported nonsense truncation mutation g.42007251G > A (p.R792X; rs121917714) in the GCPS family and a novel single nucleotide insertion g.42004239_42004240insA (p.E1478X) in the sporadic case of postaxial polydactyly (PAP).
|
26508445 |
2016 |
Greig cephalopolysyndactyly syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Here we report on the molecular and clinical study of 76 cases from 55 families with either a GLI3 mutation (49 GCPS and 21 PHS), or a large deletion encompassing the GLI3 gene (6 GCPS cases).
|
24736735 |
2015 |
Greig cephalopolysyndactyly syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Here we report on the molecular and clinical study of 76 cases from 55 families with either a GLI3 mutation (49 GCPS and 21 PHS), or a large deletion encompassing the GLI3 gene (6 GCPS cases).
|
24736735 |
2015 |
Greig cephalopolysyndactyly syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we report on the molecular and clinical study of 76 cases from 55 families with either a GLI3 mutation (49 GCPS and 21 PHS), or a large deletion encompassing the GLI3 gene (6 GCPS cases).
|
24736735 |
2015 |
Greig cephalopolysyndactyly syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
GLI3 plays a predominant role in the pathogenesis of syndromic polydactyly: mutations have been identified in 68% of patients with Greig cephalopolysyndactyly syndrome and 91% of patients with Pallister-Hall syndrome.
|
24667698 |
2014 |
Greig cephalopolysyndactyly syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A single patient with acrocallosal syndrome and a de novo p.Ala934Pro mutation in GLI3 has been reported, whereas diverse and numerous GLI3 mutations have also been described in syndromes with overlapping clinical manifestations, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, trigonocephaly with craniosynostosis and polydactyly, oral-facial-digital syndrome, and non-syndromic polydactyly.
|
23633388 |
2013 |
Greig cephalopolysyndactyly syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding the zinc finger transcription factor GLI3 (GLI-Kruppel family member 3) have been identified in patients with Grieg cephalopolysyndactyly syndrome in which premature fusion of calvarial suture (craniosynostosis) is an infrequent but important feature.
|
22547067 |
2012 |
Greig cephalopolysyndactyly syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our findings fully support previous genotype-phenotype correlations, showing that exonic deletions, missense mutations, as well as truncating variants localised out of the middle third of the GLI3 gene result in GCPS/PPD-IV and not PHS.
|
22903559 |
2012 |
Greig cephalopolysyndactyly syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In all five children, the diagnosis of GCPS was confirmed by molecular analysis of GLI3 (two had intragenic mutations and three had complete gene deletions detected on array comparative genomic hybridisation), thus highlighting the importance of trigonocephaly or overt metopic or sagittal synostosis as a distinct presenting feature of GCPS.
|
21326280 |
2011 |
Greig cephalopolysyndactyly syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This deleted region included GLI3 and GCK genes (where heterozygous mutations cause GCPS and MODY2, respectively), and many other contiguous genes.
|
22043488 |
2011 |
Greig cephalopolysyndactyly syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The most important issue might be that GCPS and PHS exhibit an autosomal dominant trait, but mouse homologs, such as Pdn/Pdn, Xt(H)/Xt(H), Xt(J)/Xt(J) and Gli3(tmlUrt)/Gli3(tmlUrt), are autosomal recessive traits in the manifestation of similar phenotypes to human diseases.
|
20201963 |
2010 |
Greig cephalopolysyndactyly syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Metopic craniosynostosis due to mutations in GLI3: A novel association.
|
20583172 |
2010 |
Greig cephalopolysyndactyly syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
|
20672375 |
2010 |
Greig cephalopolysyndactyly syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The present findings provide an explanation for the pathogenesis of GCPS in patients carrying C-terminal point mutations, and close the gap in our understanding of how GLI3-genotypes give rise to particular phenotypes.
|
19829694 |
2009 |
Greig cephalopolysyndactyly syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Greig cephalopolysyndactyly syndrome (GCPS) is a rare multiple congenital anomaly syndrome that is inherited in an autosomal dominant pattern and is caused by haploinsufficiency of the GLI3 gene.
|
18241058 |
2008 |
Greig cephalopolysyndactyly syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with a phenotype consistent with GCPS (but which may not manifest all three attributes listed above) and a GLI3 mutation may be diagnosed definitively with GCPS.
|
18435847 |
2008 |
Greig cephalopolysyndactyly syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Greig cephalopolysyndactyly syndrome (GCPS) is a rare multiple congenital anomaly syndrome that is inherited in an autosomal dominant pattern and is caused by haploinsufficiency of the GLI3 gene.
|
18241058 |
2008 |
Greig cephalopolysyndactyly syndrome
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
The Greig cephalopolysyndactyly syndrome.
|
18435847 |
2008 |
Greig cephalopolysyndactyly syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel syndrome, combining features of CCM and GCPS, can be added to the group of entities that result from deleterious genetic variants involving GLI3, including GCPS, acrocallosal syndrome, Pallister-Hall syndrome, and contiguous gene syndrome.
|
18154020 |
2007 |