Figure 1
From: Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations
Pedigrees of three families of our cohort. (a) Family pedigree of proband 1, in whom we found a novel homozygous missense mutation (p.V1270D) (black arrow in the electropherogram, upper panel). Multiple sequence alignment of spatacsin with other species shows the conservation of this amino acid as well as the adjacent sequence. (b) Family of proband 10 (upper panel); electropherogram showing a heterozygous 2-bp deletion in exon 37 and a complex heterozygous gene rearrangement identified by multiplex ligation-dependent probe amplification, involving duplications and a deletion (lower panel). (c) Family of proband 14 (upper panel); electropherogram showing a heterozygous 4-bp deletion in exon 16 (lower panel). RPA, relative peak area.
