Figure 2. Pedigree and mutation analysis. A: Shown is an Israeli Jewish family in which the c.2281–26_-17del mutation is segregated. Filled symbols represent affected
individuals, whereas clear symbols represent unaffected individuals. A double line represents a consanguineous marriage. Genotypes
of family members are indicated below them. Del, deletion; +, no deletion. B: Shown are nucleotide sequence traces of the border between PROM1 intron 21 and exon 22, in an individual homozygous for the c.2281–6C allele (top), an individual homozygous for the c.2281–6G
allele (middle), and an individual homozygous for the c.2281–6G allele and the c.2281–26_-17 deletion (bottom). The position
of the c.2281–6C>G allele is indicated by an arrow. The deletion breakpoint is indicated by a dashed line in the bottom image,
while the deleted bases are indicated by a box in the corresponding wild-type (wt) sequences (top and middle). The intron–exon
border is marked by a curved arrow. The location of a putative binding site for SRSF2 is marked by a red line.