ResearchBIORXIVMar 30
Preprint: Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder
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.
WHY IT MATTERSIf 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.