|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
As mutations in TCF4 cause Pitt-Hopkins syndrome (PTHS) characterized by severe intellectual disability, our data also potentially provide insights into the basis of neurological defects linked to TCF4 mutations.
|
31845732 |
2019 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Rare TCF4 coding variants are found in individuals with Pitt-Hopkins syndrome-an intellectual disability and autism spectrum disorder.
|
31081034 |
2019 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
Biomarker
|
disease |
BEFREE |
Haploinsufficiency of TCF4 was found to cause Pitt-Hopkins syndrome (PTHS), a severe neurodevelopmental disorder.
|
30830316 |
2019 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
ChromosomalRearrangement
|
disease |
ORPHANET |
Two unrelated individuals carrying rare mosaic deletions in TCF4 gene.
|
30450687 |
2019 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
Biomarker
|
disease |
BEFREE |
Haploinsufficiency of the class I bHLH transcription factor TCF4 causes Pitt-Hopkins syndrome (PTHS), a severe neurodevelopmental disorder, while common variants in the <i>TCF4</i> gene have been identified as susceptibility factors for schizophrenia.
|
29588831 |
2018 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pitt-Hopkins syndrome (PTHS) is a rare, genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation.
|
29318938 |
2018 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Common Pathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome.
|
29222403 |
2018 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Therefore, we reevaluated ten patients carrying a pathogenic or likely pathogenic variant in TCF4 (eight patients included in this study and two from our previous ID-HTS study) for PTHS criteria defined by Whalen and Marangi.
|
29695756 |
2018 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
Biomarker
|
disease |
BEFREE |
These results suggest that Tcf4 is involved in synaptic plasticity in mature neurons, and functional loss of Tcf4 may contribute to the neurological symptoms in Pitt-Hopkins syndrome.
|
29933371 |
2018 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, we have identified a de novo nonsense mutation of TCF4 carried by a Chinese girl with PTHS.
|
29604340 |
2018 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
Biomarker
|
disease |
MGD |
Common Pathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome.
|
29222403 |
2018 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder caused by insufficient expression of the TCF4 gene.
|
30375316 |
2018 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.
|
28807867 |
2017 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our data indicate effects of TCF4 perturbation on human cortical progenitor cell proliferation, a process that could contribute to cognitive deficits in individuals with Pitt-Hopkins syndrome and risk for schizophrenia.
|
27689884 |
2017 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
Biomarker
|
disease |
BEFREE |
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.
|
28807867 |
2017 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.
|
28631899 |
2017 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
Biomarker
|
disease |
BEFREE |
Transcription factor 4 (TCF4 also known as ITF2 or E2-2) is a basic helix-loop-helix (bHLH) protein associated with Pitt-Hopkins syndrome, intellectual disability, and schizophrenia (SCZ).
|
28951451 |
2017 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TCF4 are a known cause of Pitt-Hopkins syndrome.
|
27270050 |
2016 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The findings in our family support the notion that the position of the mutation in TCF4 is relevant to the phenotype, with those mutations in the 5' region, cassette exons and regions not affecting the important functional domains being linked to NSID rather than PTHS.
|
27132474 |
2016 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Human haploinsufficiency of the transcription factor Tcf4 leads to a rare autism spectrum disorder called Pitt-Hopkins syndrome (PTHS), which is associated with severe language impairment and development delay.
|
27568567 |
2016 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Although validation in additional patients is required, our findings suggest that the dysmorphic features and severe intellectual disability characteristic of PTHS are partially rescued by overexpression of those short TCF4 transcripts encoding a nuclear localization signal, a transcription activation domain, and the basic helix-loop-helix domain.
|
27179618 |
2016 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
Biomarker
|
disease |
CLINGEN |
De novo mutations in moderate or severe intellectual disability.
|
25356899 |
2014 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
De novo mutations in moderate or severe intellectual disability.
|
25356899 |
2014 |