Table 4 MLPA and FISH results showing type I and type II deletions of the entire NF1 gene detected in patients with NF1
Patients55248208457111127318305
MLPA
    Centromeric probes
        CRLF3
        FLJ12735
        CENTA2
        RNF135
    Intragenic probes
        Exon 1
        Exon 12B
        Exon 23–2
        Exon 40
        Exon 48
Telomeric probes
        HCA66
        JJAZ1+++
  KIAA0563–related gene+++
FISH
        RP11–353O18DelDelDelDelDelDelDelDelDel
        RP11–17I16DelDelDelDelDelDelDelDelDel
        CTD–2283L18Non-DelDelDelNon-DelDelDelDelNon-DelDel
        CTD–3060L5Non-DelDelDelNon-DelDelDelDelNon-DelDel
        Deletion typeIIIIIIIIIIII
  • +, MLPA probes showing peak area values between 0.7 and 1.3; −, MLPA probes showing peak area values <0.7. Del, deleted; Non-del, non-deleted.