Figure 1.

Pedigree of the studied family and AIRE chromatograms. (a) The pedigree is drawn using open circles to denote unaffected female subjects and the open squares to denote unaffected male subjects; the solid figures indicate affected subjects. AIRE genotypes are noted beneath the symbol for each subject from whom DNA was available for testing. (b) Chromatograms for each family member. The two mutations are very close; the splicing variant is ∼30 bp downstream of the 13-bp deletion. The reverse sequence is shown for the splicing variant. Left: 13-bp deletion; right: splicing mutation.