First described in 1999, Bohring-Optiz syndrome (BOS) [OMIM, 605039] has recently been shown through the use of next-generation exome sequencing, to be due to de novo heterozygous mutations in the additional sex combs-like 1 gene (ASXL1) [13]. This evidence concerns the gene ASXL1 and Buschke-Ollendorff syndrome.