Publications by authors named "D A Koolen"
Article Synopsis
- This study identifies a new type of autosomal recessive intellectual disability linked to genetic variants in the GTF3C3 gene, which is essential for proper RNA polymerase III activity.
- Researchers employed various methods, including exome sequencing and Drosophila models, to analyze the effects of GTF3C3 variants found in twelve affected individuals from seven families.
- The results showed that the variants lead to significant functional losses in the gene, correlating with symptoms like intellectual disability, motor issues, seizures, and brain structure abnormalities.
The Koolen-de Vries Syndrome Foundation was founded in 2013 with the mission to educate, increase awareness, promote research and develop treatments for individuals living with Koolen-de Vries Syndrome (KdVS) and their families. With this aim, the foundation has focused on: developing scientific resources through patient cell and animal models, providing seed funding to basic and clinical researchers, establishing a natural history study of KdVS and increasing patient engagement. Projects have been prioritized across these areas of focus with an emphasis on expanding international research on KdVS, supporting translational research, establishing an international natural history study and conducting studies to assess patient priorities.
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- The study highlights the lack of understanding regarding comorbidities in individuals with neurodevelopmental disorders (NDDs), which are crucial for accurate diagnosis and prognosis.
- PhenomAD-NDD is a newly developed database that compiles comorbid phenotypic data from over 51,000 individuals with NDD, utilizing a standardized classification known as Human Phenotype Ontology (HPO).
- The findings reveal that congenital anomalies are significantly more common in the NDD population compared to the general population, and highlight that many important phenotypes related to genetic NDDs are not currently documented in existing clinical resources like OMIM.
Pathogenic variants in KANSL1 and 17q21.31 microdeletions are causative of Koolen-de Vries syndrome (KdVS), a neurodevelopmental syndrome with characteristic facial dysmorphia. Our previous work has shown that syndromic conditions caused by pathogenic variants in epigenetic regulatory genes have identifiable patterns of DNA methylation (DNAm) change: DNAm signatures or episignatures.
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