Preprint: Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder
WHY IT MATTERS
If you or your child has developmental delays, intellectual disability, or birth defects without a genetic diagnosis, this discovery means WAPL gene testing could now identify the cause in previously undiagnosed patients.
Scientists discovered that a gene called WAPL, which helps control how DNA is organized in cells, may cause a rare genetic disorder when it doesn't work properly. This is important because doctors previously thought only certain other genes in the same family could cause this type of disease. The researchers studied patients with this condition and did lab tests to prove WAPL is responsible for a genomic disorder affecting chromosome 10.
Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder Authors: Boone, P. M. et al. Server: medRxiv Category: genetic and genomic medicine Abstract: Cohesin is a fundamental genome-organizing complex that orchestrates three-dimensional chromosome folding and gene expression via DNA loop extrusion. Alterations to genes encoding cohesin subunits and cohesin loaders cause Mendelian disorders, including Cornelia de Lange syndrome (CdLS). By contrast, disruption of factors that remove cohesin from DNA, including WAPL and its binding partners PDS5A and PDS5B, have not yet been associated with human disease. Here, we explored the relevance of these cohesin release factors in Mendelian disease by establishing a rare disease cohort of deeply phenot
ASK YOUR DOCTOR
If you have an undiagnosed developmental or genetic condition, ask your genetic counselor or doctor whether WAPL gene sequencing should be included in your next genetic testing panel.