| http://purl.uniprot.org/citations/33069932 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/33069932 | http://www.w3.org/2000/01/rdf-schema#comment | "Pitt-Hopkins syndrome is a rare neurodevelopment disorder caused by haploinsufficiency of the transcription factor 4 (TCF4). The main clinical symptoms of Pitt-Hopkins syndrome are severe development delay, intellectual disability, characteristic facial phenotype, and breathing abnormalities, including episodic hyperventilation. Different pathogenic variants can lead to Pitt-Hopkins syndrome. The most common are large deletions at 18q21 encompassing the TCF4 gene and frameshifting/nonsense single nucleotide variants. However, variants in noncoding regions can also lead to Pitt-Hopkins syndrome by disrupting the normal pre-mRNA splicing machinery. Here we describe three patients with Pitt-Hopkins syndrome caused by a large deletion in chromosome 18, a nonsense variant, and a novel variant located in intron 11 of TCF4 c.922+5G > A. Using RT-PCR analysis and minigene splicing assay we showed that this intronic variant leads to exon 11 skipping resulting in a formation of a premature stop codon. To our knowledge, this is the first functional annotation of a splicing variant in Pitt-Hopkins syndrome."xsd:string |
| http://purl.uniprot.org/citations/33069932 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ejmg.2020.104088"xsd:string |
| http://purl.uniprot.org/citations/33069932 | http://purl.uniprot.org/core/author | "Filatova A."xsd:string |
| http://purl.uniprot.org/citations/33069932 | http://purl.uniprot.org/core/author | "Skoblov M."xsd:string |
| http://purl.uniprot.org/citations/33069932 | http://purl.uniprot.org/core/author | "Markova T."xsd:string |
| http://purl.uniprot.org/citations/33069932 | http://purl.uniprot.org/core/author | "Sparber P."xsd:string |
| http://purl.uniprot.org/citations/33069932 | http://purl.uniprot.org/core/author | "Anisimova I."xsd:string |
| http://purl.uniprot.org/citations/33069932 | http://purl.uniprot.org/core/author | "Chuhrova A."xsd:string |
| http://purl.uniprot.org/citations/33069932 | http://purl.uniprot.org/core/author | "Tabakov V."xsd:string |
| http://purl.uniprot.org/citations/33069932 | http://purl.uniprot.org/core/author | "Voinova V."xsd:string |
| http://purl.uniprot.org/citations/33069932 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
| http://purl.uniprot.org/citations/33069932 | http://purl.uniprot.org/core/name | "Eur J Med Genet"xsd:string |
| http://purl.uniprot.org/citations/33069932 | http://purl.uniprot.org/core/pages | "104088"xsd:string |
| http://purl.uniprot.org/citations/33069932 | http://purl.uniprot.org/core/title | "Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome."xsd:string |
| http://purl.uniprot.org/citations/33069932 | http://purl.uniprot.org/core/volume | "63"xsd:string |
| http://purl.uniprot.org/citations/33069932 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/33069932 |
| http://purl.uniprot.org/citations/33069932 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/33069932 |
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| http://purl.uniprot.org/uniprot/#_A0A1B0GW91-mappedCitation-33069932 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/33069932 |
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| http://purl.uniprot.org/uniprot/#_G0LNT1-mappedCitation-33069932 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/33069932 |
| http://purl.uniprot.org/uniprot/#_G0LNT2-mappedCitation-33069932 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/33069932 |
| http://purl.uniprot.org/uniprot/#_G0LNT3-mappedCitation-33069932 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/33069932 |
| http://purl.uniprot.org/uniprot/#_G0LNT4-mappedCitation-33069932 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/33069932 |