Table 1

Details of mutations in the perforin 1 gene observed in 10 patients with HLH

Case Ethnic origin 1-150/** Nucleotide Exon Mutation Predicted effect Domain
1Ghana ** 502del t1-152 L 17 Fs and stop
2Italy ** 2832t>cW 94 R
3Italy ** 6573c>aY 219 stop2nd TM
4Italy ** 6583g>aG 220 S2nd TM
5Italy 1-150 6623c>tT221I2nd TM
1-150 6733c>t1-152 R225W2nd TM
6Italy 1-150 6943c>tR 232 C
1-150 11823ins tG 394 Fs and stopEGF-like
7Turkey ** 11223g>a1-152 W 374 stopEGF-like
8Turkey ** 11223g>aW 374 stopEGF-like
91-151 Turkey ** 11223g>aW374 stopEGF-like
10Turkey ** 11223g>aW374 stopEGF-like
  • 1-150 /** = heterozygous/homozygous mutation.

  • 1-151 The same mutation was also observed in his brother with an identical clinical picture.

  • 1-152 These mutations have been previously described by Steppet al.10

  • 2nd TM = second transmembrane domain.

  • EGF-like = epidermal growth factor-like domain.

  • Fs = frameshift.