Figure 4. Cosegregation of two novel ABCA4 mutations with the disease in the family. Sequence analysis on mutations c.655A>T and c.5312+3A>T were done on every family member. Both mutations cosegregated with the disease within the family. Both affected sisters inherited the c.655A>T mutant allele from their father and the c.5312+3A>T mutant allele from their mother. Normal siblings either carried both widetype alleles (II-2, 6, 8, 9) or only one mutant allele (II-3, 5, 7, 10).