Gene/syndrome under study
Koolen de Vries syndrome (OMIM #610443; ORPHA: 96169); KANSL1 (OMIM *612452)
Abstract
We are seeking collaboration to advance research on Koolen de Vries syndrome (KdVS), a multisystem neurodevelopmental disorder typically caused by a 17q21.31 deletion which affects the KANSL1 gene, or by a heterozygous pathogenic variant in KANSL1. Most single nucleotide variants associated with this condition are de novo frameshift and nonsense mutations. However, we are particularly interested in patients with missense KANSL1 variants, especially those located at or near the highly conserved Arg592 codon.
Our aim is to compile detailed clinical data, assess phenotypic similarities using PhenoScore, and perform DNA methylation analysis to deepen our understanding of the mechanisms driving KdVS. If you are working with relevant cases or have patients who fit this profile, we would greatly appreciate your collaboration.
Coordinating clinician
David A. Koolen – david.koolen@radboudumc.nl
Institution
Department of Human Genetics, Radboudumc, Nijmegen, the Netherlands
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: Yes
2- Resampling of patients: No
3- Linked to a translational/basic research project: Yes