|
Pallister-Hall syndrome
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Pallister-Hall syndrome is a very rare autosomal dominant genetic disorder due to mutation in GLI3 gene in the short arm of chromosome 7 with variable penetrance and expressivity.
|
29204208 |
2019 |
|
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 |
GENOMICS_ENGLAND |
Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly.
|
31115189 |
2019 |
|
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 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
We also provide illustrative clinical examples from our practice including a family with a novel GLI3 mutation causing PHS.
|
28224613 |
2017 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.
|
27231705 |
2016 |
|
Pallister-Hall syndrome
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.
|
26508445 |
2016 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
New insights into genotype-phenotype correlation for GLI3 mutations.
|
24736735 |
2015 |
|
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 |
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 |
MGD |
Mouse limbs expressing only the Gli3 repressor resemble those of Sonic hedgehog mutants.
|
23644062 |
2013 |
|
Pallister-Hall syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Mutations in the GLI3 gene can also lead to Pallister-Hall syndrome (PHS) and isolated PAPA/B.
|
22903559 |
2012 |
|
Pallister-Hall syndrome
|
0.900 |
Biomarker
|
disease |
CTD_human |
Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.
|
21532573 |
2011 |
|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
|
20672375 |
2010 |
|
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 |
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
To test these hypotheses, we screened patients with PHS and GCPS for GLI3 mutations.
|
15739154 |
2005 |