Figure 1.

Schematic representation of the perforin gene, showing the localization of mutations in FHL. The three exons of the perforin gene are represented by boxes, introns by lines. The coding region of the perforin gene comprises exon 2 and 3 and is indicated by coloured boxes. In the upper part of the figure, mutations identified in the present study are indicated. The trp374→stop mutation, initially reported by Stepp et al. (1999), was identified in four families (see table 2). The lower part represents previously described mutations in the perforin gene (Stepp et al. 1999). The mutations have been grouped with regard to whether they are nonsense mutations, missense mutations, or deletions.