Figure 5. Novel FZD4 frameshift mutation in family 3

A: Pedigree of family. The asterisk denotes the individuals whose phenotype-genotype is not known. B: SSCP gel shows the aberrant band shift (arrow) of patient (II: 1) exon 1 PCR product, unrelated normal controls indicate by UN. GP-II: 1 denotes patient II: 1 genomic DNA used in PCR. ASMC II: 1 refers to allele specific mutant PCR clone shown by arrow, three lanes under ASWC designate allele specific wild type PCR clones were identified in 10% non-denaturing polyacrylamide gel C: Partial DNA sequence of FZD4 exon one from a normal control (top) and from the mutant allele subcloned into the pGEM-T vector (bottom), demonstrated that the patient (II: 1) carried a (F82fsX135) frame shift change at nucleotide c.244_251del8ins27, which generated a premature stop codon and a truncated protein.