Table 1

Summary of findings

Case no.Genomic change detected by sequencing of original cell DNART-PCR change detected by analysis of original cell RNATranscript in mutated alleleGenomic change and consequence
1a→g at nta 1559-2Faint band of reduced sizeDeletion of exons 14 and 15a→g at nt 1559-2 splicing error
2NoneFaint band of increased sizeAddition of 59 bp from intron 11CAG→CAA Q346Q splicing error
3NoneFaint band of increased sizeTandem duplication of exons 7–12Tandem duplication of 15-kb comprising exons 7–12
4GAG→AAG at codon 102, exon 3No alteration5-bp deletion in exon 3GAG→AAG E102K splicing error
  • a nt, nucleotide.