SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V
Article first published online: 21 MAY 2012
© 2012 John Wiley & Sons A/S
Volume 83, Issue 3, pages 257–262, March 2013
How to Cite
Sánchez-Ferrero, E., Coto, E., Beetz, C., Gámez, J., Corao, A., Díaz, M., Esteban, J., del Castillo, E., Moris, G., Infante, J., Menéndez, M., Pascual-Pascual, S., López de Munaín, A., Garcia-Barcina, M. and Alvarez, V. (2013), SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V. Clinical Genetics, 83: 257–262. doi: 10.1111/j.1399-0004.2012.01896.x
- Issue published online: 18 FEB 2013
- Article first published online: 21 MAY 2012
- Accepted manuscript online: 10 MAY 2012 05:18AM EST
- Received 1 March 2012, revised and accepted for publication 1 May 2012
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.
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; http://www.umd.be/SSF). 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.
Table S1. Sequences of the forward (F) and reverse (R) primers used to amplify the SPG7 gene and cDNA.
Table S2. SPG7 polymorphisms or variants with unknown effect.
Table S3. Clinical characteristics of SPG7 mutation carriers.
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