Table 3 NF1 multi-exon deletions or duplications
NAME | MLPA | Clinical features | Tumor type |
|---|---|---|---|
Wu p008 | 3’ UTR del/He | café-au-lait spot | Multiple cutaneous tumor |
Wu p013 | Exon 10 ~  58 del/He | café-au-lait spot | whole body |
Wu p016 | Exon 1 ~  58 del/He | café-au-lait spot, skin nodules | Two nodules of tumor involving the dermis and composed of spindle cells with wavy elongated nuclei |
Wu p020 | Exon 28~ 39 del/He | café-au-lait spot | Neurofibroma |
Wu p029 | Exon 4C~ 6 (no Exon 5) | café-au-lait spot, skin nodules | Right facial plexiform neurofibroma |
Wu p031 | Exon 1B~ 49 | café-au-lait spot, skin nodules | multiple nodules over face and bilateral forearms |
Wu p037 | Exon1~ 58 del/He | café-au-lait spot/List Nodules in the Iris | multiple nodules over face |
Wu p061 | Exon37~ 51 del/He | café-au-lait spot | NF1 with optic nerve glioma |
Wu p062 | Exon2~ 8 del/He | café-au-lait spot/List Nodules in the Iris | right thigh subcutaneous layer soft tissue nodule |
Wu p065 | Exon 28–29 del/He | café-au-lait spot | lower limb plexiform NF |
Wu p069 | Exon1~ 58 del/He | café-au-lait spot/List Nodules in the Iris | Neurofibroma over back |
Wu p082 | Exon2~ 5 del/He | café-au-lait spot | plexiform neurofibroma over buttock |
Wu p085 | Exon2~ 5 del/He | café-au-lait spot | left optic nerve glioma & liposarcoma |
Wu p093 | Exon 1B ~ 4B | skin nodules/List Nodules in the Iris | Plexiform Neurofibroma |
Wu p099 | Exon 4C~ 6 (no Exon 5) | café-au-lait spot, skin nodules | skin and soft tissue on right face, plexiform neurofibroma |