Bohring–Opitz syndrome (BOS) with a new ASXL1 pathogenic variant

A new article on Bohring-Opitz Syndrome: Bohring–Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome.

The auteurs, Silvana Beatriz Dangiolo, Ashley Wilson, Vaidehi Jobanputra and Kwame Anyane-Yeboa emphasize the importance of further phenotypic delineation of Bohring-Opitz Syndrome. In this case report whole exome sequencing analysis detected one novel disruptive frameshift mutation in the ASXL1 gene and the presence of two CFTR mutations which are associated with the patient’s chronic pancreatitis.