Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles

Figure 1

Family F11. (a) Pedigree of patients F11A and F11C (probands). Arrows indicate the probands. Affected and unaffected individuals are represented with black and open circles, respectively. Males are represented with a quadrant and females with a circle. The asterisk denotes the individuals genetically examined. A dot in a symbol denotes an unaffected carrier of the respective mutation. Pluses (+) denote the wild type alleles. (b, c, d, and e) Sequence chromatograms of the F11A and F11C showing the complex allele c.1622T>C/c.3113C>T (p.Leu541Pro/p.Ala1038Val) in homozygosity in proband F11A (b, d) and in heterozygosity in proband F11C (c, e). (f) Sequence chromatogram of the proband F11C showing the missense mutation c.5882G>A (p.Gly1961Glu) in heterozygosity on the second allele. The arrow indicates the position of the G to A substitution at the second nucleotide of codon 1961 encoded by GGA marked by a horizontal line.

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