Peter Lauffer

Jul 18, 2024 | fis.tu-dresden.de | Amsterdam Reproduction |Peter Lauffer |Kathleen Rooney |Ananília Silva

Abstract Externe IDs PubMedCentral PMC11087720 SchlagworteHumans, Transcription Factor 4/genetics, Hyperventilation/genetics, Intellectual Disability/genetics, Female, DNA Methylation, Male, Child, Facies, Adolescent, Epigenomics/methods, Epigenesis, Genetic, Hyperkinesis/genetics, Child, Preschool, Adult, Young Adult

Apr 3, 2024 | cell.com | Amsterdam Reproduction |Peter Lauffer |Kathleen Rooney |Ananília Silva

AbstractPitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder caused by pathogenic variants in TCF4, leading to intellectual disability, specific morphological features, and autonomic nervous system dysfunction. Epigenetic dysregulation has been implicated in PTHS, prompting the investigation of a DNA methylation (DNAm) "episignature" specific to PTHS, for diagnostic purposes and variant reclassification, and further functional insights into the molecular pathophysiology of this disorder.