Figure 4. HSF4 mutation in family JEE13. A: Sequence analysis of HSF4 genomic DNA indicates heterozygosity at position +9 of the first intron (red arrow) of the proband’s HSF4 gene. B: Comparison of the wild-type sequence (AB029347) with the proband’s sequence demonstrates a C→T exchange at position 9 of intron 1. The mutation leads to a loss of a HaeIII restriction site (underlined). C: Restriction analysis with (+) or without (-) the enzyme HaeIII in members of the family leads to an additional fragment of 98 bp in the mutant DNA (red); it demonstrates the presence of the mutation in the affected mother (II.3) and in the proband (III.4). The asterisks mark the additional band of 98 bp indicating the mutation; the band of 262 bp indicates the undigested DNA. C40 and WT represent independent controls from our laboratories; M=marker.