|
Greig cephalopolysyndactyly syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The GCPS mutant protein has no effect on GLI3-activated PTCH1 transcription, consistent with the role of haploinsufficiency in this disorder.
|
10077605 |
1999 |
|
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 |
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 |
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 |
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 |
|
Pallister-Hall syndrome
|
0.900 |
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 |
|
Pallister-Hall syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here, we report that cochleae from a mouse model of PHS (Gli3(Delta699)), which produces only the truncated, repressor form of GLI3, have a variably penetrant phenotype that includes an increase in the size of the sensory epithelium and the development of large ectopic sensory patches in Kölliker's organ (KO).
|
18632939 |
2008 |
|
Pallister-Hall syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In addition to GCPS, Pallister-Hall syndrome (PHS; MIM 146510) and post-axial polydactyly type A (PAP-A; MIM 174200), two other disorders of human development, are caused by GLI3 mutations.
|
10441342 |
1999 |
|
Pallister-Hall syndrome
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor.
|
26604140 |
2016 |
|
Pallister-Hall syndrome
|
0.900 |
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 |
|
Pallister-Hall syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
We studied the involvement of GLI3 in additional phenotypes of digital abnormalities in one family (UR003) with preaxial polydactyly type-IV (PPD-IV), three families (UR014, UR015, and UR016) with dominant PAP-A/B (with PPD-A and -B in the same family), and one family with PHS.
|
10441570 |
1999 |
|
Pallister-Hall syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Approximately 5% of HH cases are associated with Pallister-Hall syndrome (PHS), which is caused by haploinsufficiency of GLI3.
|
18252217 |
2008 |
|
Pallister-Hall syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations that lead to loss of function of the protein and to haploinsufficiency cause GCPS, while truncating mutations that result in constitutive repressor function of GLI3 lead to PHS.
|
19829694 |
2009 |
|
Pallister-Hall syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Pallister-Hall syndrome (PHS) is a rare malformative disorder that is due to truncating functional repressor mutations in GLI3.
|
28429635 |
2019 |
|
Pallister-Hall syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Genotype/phenotype correlations have led to fine mapping of GLI3 and the recognition that PHS is caused by dominant negative mutations in the middle third of the gene.
|
25424727 |
2014 |
|
Pallister-Hall syndrome
|
0.900 |
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 |
|
Pallister-Hall syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
GLI3 mutations have been implicated in the mouse mutant extra toes, as well as in human Greig cephalopolydactaly syndrome and the autosomal dominant form of Pallister-Hall syndrome.
|
9440116 |
1997 |
|
Pallister-Hall syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Most of the time, this hamartoma occurs in Pallister-Hall syndrome (PHS), due to heterozygous GLI3 mutations.
|
19449422 |
2009 |
|
Pallister-Hall syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We have previously shown GLI3 mutations in two other small, moderately affected families with Pallister-Hall syndrome.
|
9192261 |
1997 |
|
Pallister-Hall syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GLI3 have been shown to cause Greig cephalopolysyndactyly, Pallister-Hall syndrome and non-syndromic polydactyly.
|
25267529 |
2014 |
|
Pallister-Hall syndrome
|
0.900 |
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 |
|
Pallister-Hall syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
We hypothesized that GLI3 mutations that predict a truncated functional repressor protein cause PHS and that functional haploinsufficiency of GLI3 causes GCPS.
|
15739154 |
2005 |
|
Pallister-Hall syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The PAP-A mutant protein (GLI3-PAP-A) showed less specific subcellular localization but still inhibited GLI3-activated PTCH1 transcription, suggesting it may be a weaker allele than the GLI3-PHS mutation.
|
10077605 |
1999 |
|
Pallister-Hall syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The urogenital and anorectal abnormalities associated with PHS might be related to dysregulation of SHH signaling caused by GLI3 mutations rather than hormonal aberrations.
|
21108399 |
2010 |
|
Pallister-Hall syndrome
|
0.900 |
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 |