Long awaited BOS publication

The long-awaited sequel to the latest publication by Bianca Russell and her team has been released: “Clinical findings in 39 individuals with Bohring–Opitz syndrome from a global patient-driven registry with implications for tumor surveillance and recurrence risk.”

This follow-up to the publications in 2015 (Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance. Am J Med Genet A. 2015) and in 2018 (Bohring-Opitz Syndrome, PMID: 29446906) presents survey data from the largest known cohort of individuals with BOS with 34 participants from the ASXL Patient-Driven Registry and data from five additional individuals with notable findings. Not only for this publication but also for ASXL research in general the ASXL Registry is a crucial tool to support the ASXL community.

New important information about hepatoblastoma, an additional individual with Wilms tumor and two families where mosaicism was identified as a genetic cause for Bohring-Opitz Syndrome are presented, including a pair of siblings. This publication concluded that birth weights were within the normal range for the majority of participants, as the presence of craniosynostosis and hernias. Component of this publication are as well as insights on the characterization of communication, motor skills, and level of care including hospitalization frequency and surgical procedures.

To be continued.