ArticleHuman genetics2011
The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions.
Article in Human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Replication-Based Mechanism Underlies a Complex dup(18p)/del(18q) Rearrangement Not Derived From Parental Inversion.Molecular syndromology · 2026Article
- An attempt to explain what intrinsically disordered TCF4 does in its spare time when PTHS-related mutations prevent it from doing its job.Cell communication and signaling : CCS · 2025Review
- Article
- Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies.Journal of human genetics · 2021Article
- Disordered breathing in a Pitt-Hopkins syndrome model involves Phox2b-expressing parafacial neurons and aberrant Nav1.8 expression.Nature communications · 2021Article
- [Congenital hypopituitarism with monosomy of chromosome 18].Problemy endokrinologii · 2021Article
- Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes.Journal of neurodevelopmental disorders · 2019Article
- Two unrelated individuals carrying rare mosaic deletions in TCF4 gene.American journal of medical genetics. Part A · 2019Article
- Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.Journal of child neurology · 2018Review
- Common Pathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2018Article
- Establishing a reference group for distal 18q-: clinical description and molecular basis.Human genetics · 2014Article
- Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription.Experimental & molecular medicine · 2013Review
- Pitt-Hopkins Syndrome.Molecular syndromology · 2012Article
- Case report of a novel phenotype in 18q deletion syndrome.Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologieArticle
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
The goal of this study is to define the effects of TCF4 hemizygosity in the context of a larger segmental deletion of chromosome 18q. Our cohort included 37 individuals with deletions of 18q. Twenty-seven had deletions including TCF4 (TCF4 (+/-)); nine had deletions that did not include TCF4 (TCF4 (+/+)); and one individual had a microdeletion that included only the TCF4 gene. We compared phenotypic data from the participants' medical records, survey responses, and in-person evaluations. Features unique to the TCF4 (+/-) individuals included abnormal corpus callosum, short neck, small penis, accessory and wide-spaced nipples, broad or clubbed fingers, and sacral dimple. The developmental data revealed that TCF4 (+/+) individuals were only moderately developmentally delayed while TCF4 (+/-) individuals failed to reach developmental milestones beyond those typically acquired by 12 months of age. TCF4 hemizygosity also conferred an increased risk of early death principally due to aspiration-related complications. Hemizygosity for TCF4 confers a significant impact primarily with regard to cognitive and motor development, resulting in a very different prognosis for individuals hemizygous for TCF4 when compared to individuals hemizygous for other regions of distal 18q.
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