Fig. 2

A novel PD syndrome is linked to a founder mutation in WDR4. a AutoSNPa showing the shared haplotype between individual II:2 in Family 1, Individual II:6 in Family 2 denoted by black lines (boxed in green lines). b illustration to the exome filtering scheme and the number of survived variants in each step in both c Sequence chromatograms of the mutation (control tracing is shown for comparison and the location of the mutation is denoted by an arrow) and its location indicated in WD repeat domain 4 on a schematic of WDR4. Also shown is the multisequence alignment of the mutated reside (p.Arg170) showing high conservation down to Danio rerio (boxed in green)