Figure 4.

PDCD10 point mutations. A, PDCD10 genomic organization. The 10 PDCD10 exons are numbered and are indicated by vertical hatches. The ATG initiator codon is included in the 4th exon, and the TGA stop codon is in the 10th (last) exon. The locations of the different PDCD10 point mutations are indicated by arrows. B, Mutated alleles in families harboring mutations. Family numbers are given above the mutation. Sequence chromatograms of genomic DNA are shown for all probands, except for the C043 proband, whose chromatogram is of cDNA. Families C030 and C077 harbored the same mutation; therefore, we show only the chromatogram obtained in the proband of pedigree C030. F = forward primer; R = reverse primer.