We identified 16 protein-coding genes disrupted by at least 1 breakpoint, 8 of which are associated with human disease (Additional file 1: Table S2) Among them, only SRP72 and SGMS2 are associated with autosomal dominant inheritance; however, both genes have a pLI score inconsistent with haploinsuffciency, and the associated phenotypes (bone marrow failure syndrome and calvarial doughnut lesions with bone fragility) have no overlap with our proband (Additional file 1: Table S2). The gene discussed is SGMS2; the disease is bone marrow failure syndrome.