Bohring-Opitz Syndrome (BOS, MIM 612990) is a rare condition characterized by dysmorphic features, failure to thrive, severe intellectual disability, nevus flammeus and myopia. It can be caused by heterozygous mutations in ASXL1, a gene involved in the regulation of Hox genes.
Russel et al. (AJMG, 2015, Apr 29. doi: 10.1002/ajmg.a.37131. [Epub ahead of print]) just published clinical management recommendations for this condition, including for feeding concerns, vomiting, infection, and other features. They also reported on two BOS patients who developed bilateral Wilms Tumor. As somatic mutations in ASXLI have been previously associated with myeloid malignancies, the increased risk for cancer in BOS patients is not completely unexpected. The authors recommend that patients with BOS undergo kidney ultrasounds every 3-4 months in the first 8 years of life.
Hilary Vernon, MD PhD