Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.

European journal of medical genetics - 1 Nov 2017

Bedeschi Maria Francesca, Marangi Giuseppe, Calvello Maria Rosaria, Ricciardi Stefania, Leone Francesca Pia Chiara, Baccarin Marco, Guerneri Silvana, Orteschi Daniela, Murdolo Marina, Lattante Serena, Frangella Silvia, Keena Beth, Harr Margaret H, Zackai Elaine, Zollino Marcella

Abstract excerpt

Pitt-Hopkins syndrome is a neurodevelopmental disorder characterized by severe intellectual disability and a distinctive facial gestalt. It is caused by haploinsufficiency of the TCF4 gene. The TCF4 protein has different functional domains, with the NLS (nuclear localization signal) domain coded by exons 7-8 and the bHLH (basic Helix-Loop-Helix) domain coded by exon 18. Several alternatively spliced TCF4 variants...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alternative Splicing
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Facies

Share to Frameshift Mutation

Share to Intellectual Disability

Share to Loss of Function Mutation

Share to Protein Domains

Share to Transcription Factor 4

Source

Identifiers

PMID: 28807867
DOI: 10.1016/j.ejmg.2017.08.004

Genes

TCF4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.PMID 28807867Read ↗

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.Semantic proximity Read ↗

Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.Semantic proximity Read ↗

Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient.Semantic proximity Read ↗

Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patientsSemantic proximity Read ↗

Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome.Semantic proximity Read ↗

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.Semantic proximity Read ↗

Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.Semantic proximity Read ↗

263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.Semantic proximity Read ↗

TCF4 deletions in Pitt-Hopkins Syndrome.Semantic proximity Read ↗

A novel variant in the 3' UTR of the TCF4 gene likely causes Pitt-Hopkins syndrome: a case report.Semantic proximity Read ↗

Pitt-Hopkins syndrome: phenotypic and genotypic description of four unrelated patients and structural analysis of corresponding missense mutations.Semantic proximity Read ↗

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.