ArticleHuman genetics2011
Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model.
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 16 papers.
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Who cites it
16 citing papers in PubMed, 31 citations in OpenAlex.
- Seizure-like behavior and hyperactivity in napb knockout zebrafish as a model for autism and epilepsy.Scientific reports · 2025Article
- Assessing Drug Administration Techniques in Zebrafish Models of Neurological Disease.International journal of molecular sciences · 2023Review
- Promyelinating drugs promote functional recovery in an autism spectrum disorder mouse model of Pitt-Hopkins syndrome.Brain : a journal of neurology · 2023Article
- Surgical treatment of Pitt-Hopkins syndrome associated with strabismus and early-onset myopia: Two case reports.World journal of clinical cases · 2022Article
- The effect of Wnt/β-catenin pathway on the scleral remolding in the mouse during form deprivation.International ophthalmology · 2021Article
- High-throughput brain activity mapping and machine learning as a foundation for systems neuropharmacology.Nature communications · 2018Article
- Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.Journal of child neurology · 2018Review
- The Intellectual Disability and Schizophrenia Associated Transcription Factor TCF4 Is Regulated by Neuronal Activity and Protein Kinase A.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2017Article
- WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk GeneMolecular neuropsychiatry · 2017Article
- Molecular Mechanisms of Transcription Factor 4 in Pitt Hopkins Syndrome.Current genetic medicine reports · 2017Article
- Article
- Neurodevelopmental models of transcription factor 4 deficiency converge on a common ion channel as a potential therapeutic target for Pitt Hopkins syndrome.Rare diseases (Austin, Tex.) · 2016Article
- Transcription factor 4 (TCF4) and schizophrenia: integrating the animal and the human perspective.Cellular and molecular life sciences : CMLS · 2014Review
- Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription.Experimental & molecular medicine · 2013Review
- Toward developmental models of psychiatric disorders in zebrafish.Frontiers in neural circuits · 2013Review
- Pitt-Hopkins Syndrome.Molecular syndromology · 2012Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In this study, we performed an in-depth analysis of the neurologic and ophthalmologic phenotype in a patient with Pitt-Hopkins syndrome (PTHS), a disorder characterized by severe mental and motor retardation, carrying a uniallelic TCF4 deletion, and studied a zebrafish model. The PTHS-patient was characterized by high-resolution magnetic resonance imaging (MRI) with diffusion tensor imaging to analyze the brain structurally, spectral-domain optical coherence tomography to visualize the retinal layers, and electroretinography to evaluate retinal function. A zebrafish model was generated by knockdown of tcf4-function by injection of morpholino antisense oligos into zebrafish embryos and the morphant phenotype was characterized for expression of neural differentiation genes neurog1, ascl1b, pax6a, zic1, atoh1a, atoh2b. Data from PTHS-patient and zebrafish morphants were compared. While a cerebral MRI-scan showed markedly delayed myelination and ventriculomegaly in the 1-year-old PTHS-patient, no structural cerebral anomalies including no white matter tract alterations were detected at 9 years of age. Structural ocular examinations showed highly myopic eyes and an increase in ocular length, while retinal layers were normal. Knockdown of tcf4-function in zebrafish embryos resulted in a developmental delay or defects in terminal differentiation of brain and eyes, small eyes with a relative increase in ocular length and an enlargement of the hindbrain ventricle. In summary, tcf4-knockdown in zebrafish embryos does not seem to affect early neural patterning and regionalization of the forebrain, but may be involved in later aspects of neurogenesis and differentiation. We provide evidence for a role of TCF4/E2-2 in ocular growth control in PTHS-patients and the zebrafish model.
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