cge1896-sup-0001-FigureS1.jpgWord document53K

Fig S1. (a) Histogram of the MLPA from the HSP402 patient showing the deletion of exons 2–9 of SPG7. (b) Amplification of cDNA with primers that matched exons 1 and 10 (lanes: 1 = negative control, 2 = genomic DNA, 3 and 4 = negative control cDNA, 5 = cDNA with exons 2–9 deletion). (c) Sequence of the fragment amplified from the patient's cDNA.

cge1896-sup-0002-FigureS2.jpgWord document54K

Fig S2. (a) Genomic sequence of a non-carrier, heterozygous carrier, and homozygous carrier for the p.L78* mutation. (b) (i) The c.376G > C variant was in the last nucleotide of exon 3 and was predicted to reduce the score of the splicing consensus site (bioinformatic analysis with the Human Splicing Finder v. 2.4; This nucleotide change could thus result in an aberrant mRNA sequence. (ii) This was confirmed in mRNA isolated from blood leukocytes. The SPG7 cDNA was amplified with primers that matched exons 3 and 4. The putative mutation resulted in an aberrantly processed pre-mRNA, with a transcript that contained a 23-bp insertion and a premature stop codon.

cge1896-sup-0003-TableS1.docWord document57K

Table S1. Sequences of the forward (F) and reverse (R) primers used to amplify the SPG7 gene and cDNA.

cge1896-sup-0004-TableS2.docWord document45K

Table S2. SPG7 polymorphisms or variants with unknown effect.

cge1896-sup-0005-TableS3.docWord document47K

Table S3. Clinical characteristics of SPG7 mutation carriers.

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