Publications by authors named "Kevin De Man"
Heterozygous de novo mutations in the Activity-Dependent Neuroprotective Homeobox (ADNP) gene underlie Helsmoortel-Van der Aa syndrome (HVDAS). Most of these mutations are situated in the last exon and we previously demonstrated escape from nonsense-mediated decay by detecting mutant ADNP mRNA in patient blood. In this study, wild-type and ADNP mutants are investigated at the protein level and therefore optimal detection of the protein is required.
View Article and Find Full Text PDFBackground: Helsmoortel-Van der Aa syndrome is a neurodevelopmental disorder in which patients present with autism, intellectual disability, and frequent extra-neurological features such as feeding and gastrointestinal problems, visual impairments, and cardiac abnormalities. All patients exhibit heterozygous de novo nonsense or frameshift stop mutations in the Activity-Dependent Neuroprotective Protein (ADNP) gene, accounting for a prevalence of 0.2% of all autism cases worldwide.
View Article and Find Full Text PDFArticle Synopsis
- Individuals with autism often face additional challenges like intellectual disability, and specific genes linked to autism affect key cellular functions, particularly chromatin remodeling.
- This review focuses on the ADNP gene, frequently mutated in syndromic autism, specifically its role in disorders like Helsmoortel-Van der Aa syndrome.
- The paper discusses how ADNP mutations disrupt various gene functions, potentially explaining the wide range of clinical features seen in affected individuals.