Table 2

New mutations identified

Case Mutation type Location Mutation form Result
NefSubstitutionIntron 4–55′ splice site(T to C)Splice site change
FIfSubstitutionExon 5nt1170(G to A)Gly to Arg
FR9fSubstitutionExon 8nt1611(G to T)Stop codon TAG
JonfSubstitutionExon 6nt1233(G to T)Stop codon TAA
ChasSubstitutionExon 7nt1420(G to T)Ser to Ile
BersDeletionExon 8nt1470(del T)Reading frameshift
PpHsSubstitutionExon 8nt1500(C to T)Stop codon TGA
GHfSubstitutionExon 8nt1500(C to T)Stop codon TGA
  • Codes ending in f are familial cases, those with s are sporadic.