|
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 |
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 |
To test these hypotheses, we screened patients with PHS and GCPS for GLI3 mutations.
|
15739154 |
2005 |
|
Greig cephalopolysyndactyly syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations.
|
12794692 |
2003 |
|
Greig cephalopolysyndactyly syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In two GCPS cases, both of which did not exhibit obvious cytogenetic rearrangements, point mutations were identified in different domains of the protein, showing for the first time that Greig syndrome can be caused by GLI3 point mutations.
|
9302279 |
1997 |
|
Greig cephalopolysyndactyly syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.
|
10441570 |
1999 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families.
|
1650914 |
1991 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Deletions and translocations in GLI3 are associated with the Greig cephalopolysyndactyly syndrome.
|
9192261 |
1997 |
|
Greig cephalopolysyndactyly syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations.
|
12794692 |
2003 |
|
Greig cephalopolysyndactyly syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
In two GCPS cases, both of which did not exhibit obvious cytogenetic rearrangements, point mutations were identified in different domains of the protein, showing for the first time that Greig syndrome can be caused by GLI3 point mutations.
|
9302279 |
1997 |
|
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 |
|
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 |
Since others have excluded GLI3 in ACS, we suggest that ACS may represent a heterogeneous group of disorders that, in some cases, may result from a mutation in GLI3 and represent a severe, allelic form of GCPS.
|
12414818 |
2002 |
|
Greig cephalopolysyndactyly syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
GLI3 mutations in GCPS patients include point, frameshift, translocation, and gross deletion mutations.
|
14608643 |
2003 |
|
Greig cephalopolysyndactyly syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.
|
10441342 |
1999 |
|
Greig cephalopolysyndactyly syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Human GLI3 gene mutations have been identified in several phenotypes of digital abnormality such as Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type-IV (PPD-IV) and postaxial polydactyly.
|
15811011 |
2005 |
|
Greig cephalopolysyndactyly syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.
|
10441342 |
1999 |
|
Greig cephalopolysyndactyly syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Large deletions or translocations resulting in haploinsufficiency of the GLI3 gene have been associated with Greig cephalopolysyndactyly syndrome (GCPS; M175700) although no mutations have been identified in GCPS patients with normal karyotypes.
|
9054938 |
1997 |
|
Greig cephalopolysyndactyly syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Isolation of a yeast artificial chromosome contig spanning the Greig cephalopolysyndactyly syndrome (GCPS) gene region.
|
8001967 |
1994 |
|
Greig cephalopolysyndactyly syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GLI3 lead to the development of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutations extra toes (Xt) and anterior digit deformity (add).
|
7814032 |
1995 |
|
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 |