Figure 2.

Results of sequence analysis of exon 11 of the HSF4 gene. A homozygous C > T transition was found at nucleotide 1213 (according to Genbank entry NM_001040667.2 encoding isoform B) in the affected individual (IV:4), predicted to change the amino acid arginine into a stop codon, while an unaffected family member (III:3) was homozygous for the WT-allele.