Figure 3
Pedigree illustrating the results from the genealogical investigation performed in the 19 Swedish p.R518X index families. The pedigree includes ascertained p.R518X mutation-carriers from five index families (n = 33, filled symbols, including two JLNS cases) connected by an ancestor couple born ~10 generations previously in the early 18th century (1702/1703). Index cases are indicated by arrows. Mutation-carriers in the most recent generation are depicted as filled diamonds, and JLNS genotype not specified, in order to preserve the anonymity of cases. The male (square) marked with an asterisk in generation 7 was married to a descendant of the female (circle), also marked with an asterisk, in generation 3. This alternative route of possible inheritance of the p.R518X mutation was omitted for legibility.