Pitt-Hopkins syndrome

People with Pitt-Hopkins syndrome have moderate to severe intellectual disability. Most affected individuals have delayed development of mental and motor skills (psychomotor delay). They are delayed in learning to walk and developing fine motor skills such as picking up small items with their fingers. People with Pitt-Hopkins syndrome typically do not develop speech; some may learn to say a few words. Many affected individuals exhibit features of autistic spectrum disorders, which are characterized by impaired communication and socialization skills.

• Publication year

  2020

• Venue

  Definitions

• Publication date

  2020-02-02

• Fields of study

  Medicine, Psychology

• Identifiers
  DOI 10.4135/9781483392271.n390
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

• Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome.

  2020cited by this paper
• Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes

  2019cited by this paper
• Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement

  2019cited by this paper
• Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series

  2018cited by this paper
• Angelman Syndrome: Identification and Management

  2017cited by this paper
• Pitt–Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription

  2013cited by this paper
• Functional analysis of TCF4 missense mutations that cause Pitt–Hopkins syndrome

  2012cited by this paper
• Development, cognition, and behaviour in Pitt–Hopkins syndrome

  2012cited by this paper
• Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patients

  2008cited by this paper
• Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.

  2007cited by this paper
• Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.

  2007cited by this paper

• The mosaicism of Cas-induced mutations and pleiotropic effects of scarlet gene in an emerging model system

  2025cites this paper
• Functionalisation of de-novo synonymous variant in TCF4 associated with Pitt-Hopkins syndrome: a case report and review of literature

  2025cites this paper
• Genome-wide association study of Fuchs’ endothelial corneal dystrophy in the German population

  2025cites this paper
• Pitt Hopkins syndrome – TCF4 gene deletion causing severe psychomotor delay

  2024cites this paper
• Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome

  2024cites this paper
• MeCP2 gene therapy ameliorates disease phenotype in mouse model for Pitt Hopkins syndrome

  2024cites this paper
• Expanding the phenotype in Pitt-Hopkins syndrome; description of new oral finding and dental management considerations

  2024cites this paper
• Complex visceral hyperalgesia in an adolescent with Pitt-Hopkins syndrome

  2024cites this paper
• Efficient CRISPR genome editing and integrative genomic analyses reveal the mosaicism of Cas-induced mutations and pleiotropic effects of scarlet gene in an emerging model system

  2024cites this paper
• Unique oral finding in a patient with Pitt-Hopkins Syndrome

  2024cites this paper
• Genomic Analysis of Multiplex Consanguineous Families Reveals Causes of Neurodevelopmental Disorders with Epilepsy.

  2023cites this paper
• A patient with Pitt–Hopkins syndrome with concomitant common variable immunodeficiency

  2023cites this paper
• Gastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders

  2023cites this paper
• 18q21.1q21.32 Deletion in a Patient With Juvenile Cerebral Infarction

  2023cites this paper
• The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt‐Hopkins syndrome

  2022cites this paper
• Pitt–Hopkins syndrome accompanying hypoxic ischemic encephalopathy in a newborn

  2022cites this paper
• The Pitt-Hopkins Syndrome: Report of 5 Patients and Literature Comparison

  2021cites this paper
• Transcription factor 4 and its association with psychiatric disorders

  2021cites this paper
• Molecular and Cellular Function of Transcription Factor 4 in Pitt-Hopkins Syndrome

  2021cites this paper
• Engineered microRNA-based regulatory element permits safe high-dose miniMECP2 gene therapy in Rett mice.

  2021cites this paper
• Pitt-Hopkins Syndrome in Children

  2021cites this paper
• The Fecal Microbiome and Metabolome of Pitt Hopkins Syndrome, a Severe Autism Spectrum Disorder

  2021cites this paper
• Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods

  2021cites this paper
• Genetics of Pathologic Myopia

  2021cites this paper
• The Gut-Brain-Microbiome Axis and Its Link to Autism: Emerging Insights and the Potential of Zebrafish Models

  2021cites this paper
• Epilepsy, electroclinical features, and long‐term outcomes in Pitt–Hopkins syndrome due to pathogenic variants in the TCF4 gene

  2021cites this paper
• Langerhans cell histiocytosis in a young patient with Pitt–Hopkins syndrome

  2020cites this paper
• Detection of Pitt-Hopkins Syndrome based on morphological facial features

  2020cites this paper
• Tcf4 encodes correct brain development during embryogenesis.

  2020influential citation
• Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient

  2020cites this paper
• Composite Sleep Problems Observed Across Smith–Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt–Hopkins Syndrome, and ASD

  2020cites this paper
• Melatonin treatment of repetitive behavioral deficits in the Cntnap2 mouse model of autism spectrum disorder

  2020cites this paper
• Defining the Teratoma as a Model for Multi-lineage Human Development.

  2020cites this paper
• Abnormal Head Size in Children and Adolescents with Congenital Nervous System Disorders or Neurological Syndromes with One or More Neurodysfunction Visible since Infancy

  2020cites this paper
• in the

  2020cites this paper
• Genetics of Biliary Atresia: A Work in Progress for a Disease with an Unavoidable Sequela into Liver Cirrhosis following Failure of Hepatic Portoenterostomy

  2019cites this paper
• Clinician’s guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature

  2019cites this paper
• TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastoma

  2019cites this paper
• The first case of a non‐infertile female patient with Pitt–Hopkins syndrome

  2019cites this paper
• Fetal and neonatal neurogenetics.

  2019cites this paper
• The versatile plasmacytoid dendritic cell: Function, heterogeneity, and plasticity.

  2019cites this paper
• An adapted walking intervention for a child with Pitt Hopkins syndrome*

  2018cites this paper
• Characterization of roles of IRF 8 in dendritic cell development and function

  2018cites this paper
• Tcf4 encodescortical differentiation during development

  2018cites this paper
• Two unrelated individuals carrying rare mosaic deletions in TCF4 gene

  2018cites this paper
• Rhabdomyolysis of Multifactorial Origin in Schizophrenia: Antipsychotics, Statins, Trauma.

  2018cites this paper
• Low-Dose Aripiprazole and Risperidone for Treating Problem Behavior in Children With Pitt-Hopkins Syndrome.

  2018influential citation
• Tg(Th-Cre)FI172Gsat (Th-Cre) defines neurons that are required for full hypercapnic and hypoxic reflexes

  2017cites this paper
• Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system

  2016cites this paper
• Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome.

  2016cites this paper
• When the face says it all: dysmorphology in identifying syndromic causes of epilepsy

  2016cites this paper
• Comprehensive Analysis of the 16p11.2 Deletion and Null Cntnap2 Mouse Models of Autism Spectrum Disorder

  2015cites this paper
• Human and Mouse Mononuclear Phagocyte Networks: A Tale of Two Species?

  2015cites this paper
• Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders

  2015cites this paper
• Communication Profiles of Two Children with Pitt-Hopkins Syndrome

  2014cites this paper
• Fraternal twins with autism, severe cognitive deficit, and epilepsy: diagnostic role of chromosomal microarray analysis.

  2014cites this paper
• Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

  2014cites this paper
• Communication Profiles of Two Children with Pitt-Hopkins Syndrome

  2014cites this paper
• Previously unreported difficult intubation in a child with Pitt–Hopkins syndrome

  2013cites this paper
• Knockdown of Human TCF4 Affects Multiple Signaling Pathways Involved in Cell Survival, Epithelial to Mesenchymal Transition and Neuronal Differentiation

  2013cites this paper
• 263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.

  2013cites this paper