WES revealed heterozygous likely pathogenic missense variants in NF1 (p.Leu2323Pro) (Neurofibromatosis type 1, MIM: 162200) and in TP53 (p.Arg282Gln) (Li-Fraumeni syndrome, MIM: 151623) (Additional file 2: Table S3). Here, NF1 is linked to neurofibromatosis type 1.