Pedigree of the family and transmission of the STEAP3/TSAP6 alleles. (A) The nonsense mutation p.C100X (−) was found in the heterozygous state in the 3 affected siblings and in their healthy father. + symbolizes the normal allele. Genotyping results of several common polymorphisms indicated that the mother transmitted the same STEAP3/TSAP6 haplotype to both her sons and the other haplotype to her daughter. Rs708672 and Rs12711924 are located in the promoter region and upstream of the gene, Rs2289894 is located in the first intron, Rs3731603, Rs6753005 and Rs3753006 are located in the 3′untranslated region. (B) Representative electrophoregrams of the normal and proband's genomic (gDNA) sequences, and the patients' cDNA sequence (sequence of the negative strand is shown). The arrow indicates the position of the heterozygous nucleotide substitution. The proband's cDNA sequence shows that only the normal allele is present at the cDNA level. The same results were obtained for the 3 affected sibling and for their father.