|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.
|
22460224 |
2012 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
TCF4 mutational analysis was performed in 117 patients with PTHS-like features.
|
18728071 |
2008 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We suggest careful studies in parents of other patients with PTHS to determine the frequency of germline and somatic mosaicism for TCF4 mutations.
|
22335494 |
2013 |
|
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 |
CGH-array allowed characterisation of a de novo 6.2 Mb 18q21.2q21.32 interstitial deletion involving TCF4, the recently identified gene responsible for Pitt-Hopkins syndrome (PHS).
|
18222743 |
2008 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
In this study, we have summarized the current knowledge of TCF4 molecular pathology, reported all the mutations in the TCF4 database (http://www.LOVD.nl/TCF4), and present a novel and comprehensive diagnostic strategy for PTHS.
|
22045651 |
2012 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
Biomarker
|
disease |
BEFREE |
Haploinsufficiency of TCF4 causes Pitt-Hopkins syndrome (PTHS): a severe form of mental retardation with phenotypic similarities to Angelman, Mowat-Wilson and Rett syndromes.
|
24058414 |
2013 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.
|
19235238 |
2009 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
Biomarker
|
disease |
BEFREE |
In order to provide a molecular biological context for the loss of function of TCF4 in PTHS, the review will also present a brief overview of the basic biochemistry of TCF4-mediated regulation of cellular and neuronal gene expression.
|
23640545 |
2013 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Both null and missense mutations impaired the interaction of TCF4 with ASCL1 from the PHOX-RET pathway in transactivating an E box-containing reporter construct; therefore, hyperventilation and Hirschsprung disease in patients with Pitt-Hopkins syndrome might be explained by altered development of noradrenergic derivatives.
|
17436255 |
2007 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TCF4 mutations also cause Pitt-Hopkins Syndrome, an autosomal-dominant neurodevelopmental disorder associated with severe mental retardation.
|
20421335 |
2010 |
|
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 |
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 |
Biomarker
|
disease |
CLINGEN |
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.
|
19235238 |
2009 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
Biomarker
|
disease |
CTD_human |
TCF4 mutational analysis was performed in 117 patients with PTHS-like features.
|
18728071 |
2008 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TCF4 mutational analysis was performed in 117 patients with PTHS-like features.
|
18728071 |
2008 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The deletion of the transcription factor 4 gene suggested a possible contribution of the deletion to the patient's facial abnormalities, as observed in Pitt-Hopkins syndrome.
|
19813260 |
2010 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, a frameshift mutation in TCF4 was identified in a patient with a clinical diagnosis of "variant" RTT, in whom the clinical evolution later raised the possibility of Pitt-Hopkins syndrome.
|
22383159 |
2012 |
|
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 |
Haploinsufficiency of the TCF4 gene has been found to be associated with the Pitt-Hopkins syndrome (PTHS).
|
20184619 |
2010 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TCF4 deletions in Pitt-Hopkins Syndrome.
|
18781613 |
2008 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
Biomarker
|
disease |
CLINGEN |
The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors.
|
17878293 |
2007 |
|
PITT-HOPKINS SYNDROME
|
1.000 |
Biomarker
|
disease |
CLINGEN |
TCF4 mutational analysis was performed in 117 patients with PTHS-like features.
|
18728071 |
2008 |
|
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 |