Genetic analysis of pedigree.

<p>a) Pedigree examined in this study. Only individuals from generations III and IV were available for genetic analysis. b) Location of the mutation NM_020919.3:c.3512+1G>A at the boundary of the 21st intron of the <i>ALS2</i> gene and c) confirmation by Sanger sequencing. d) RT-PCR of total RNA isolated from patient (IV-4 labeled as ALS2) and two control fibroblast cells (labeled BJ and CV), visualized on a gel alongside an Invitrogen 1 kb+ ladder. Three splicing transcripts corresponding to the three bands (102 bp encoding p.Ser1116_Thr1170del [red], 200 bp encoding p.Pro1148fs [blue] and 267 bp encoding the normal protein [black]) were confirmed by Sanger sequencing and illustrated in the figure.</p