At the 64th Annual Meeting of the American Society of Human Genetics on October 18-22, 2014, in San Diego, CA present Russel, B. et al. five previously unpublished patients with mutations in ASXL1. “With the occurrence of bilateral Wilms tumor in one of the patients, screening renal ultrasounds were recommended to the other patients. This led to the identification and treatment of bilateral Wilms tumor in a second patient. Given the known association between ASXL1 and myeloid malignancies along with the two patients presented here, consideration of Wilms tumor screening in patients with ASXL1 mutations will be discussed.” 2011 Researchers at the Radboud University Nijmegen medical centre found with next generation sequencing Bohring-Opitz syndrome a genetic cause of Bohring-Opitz-Syndrome. They found at 7 of 13 examined patients mutations in the ASXL1 gene.
(B. Russell, N. Kramer, L. Biesecker, J. Johnston, W. Rhead, A. Pickard, A. Dobson, L. Clarkson, J. Graham. Natural history and clinical management of patients with ASXL1 mutations and Bohring-Opitz Syndrome, including the first report of Wilms Tumor in two patients . 64th Annual Meeting of The American Society of Human Genetics, San Diego Convention Center, San Diego, CA. October 2014.)