Exome sequencing reveals SPG11 mutations causing juvenile ALS

Hussein Daoud, Sirui Zhou, Anne Noreau, Mike Sabbagh, Veronique Belzil, Alexandre Dionne-Laporte, Christine Tranchant, Patrick Dion, Guy A. Rouleau

Research output: Contribution to journalArticle

48 Citations (Scopus)

Abstract

We report here the description of a nonconsanguineous family with 2 affected individuals with a recessively inherited juvenile motor neuron disease. Exome sequencing of these 2 affected individuals led us to identify 2 compound heterozygous deletions leading to a frameshift and a premature stop codon in the SPG11 gene. One of these deletions, c.5199delA in exon 30, has not been previously reported. Interestingly, these deletions are associated with an intrafamilial phenotypic heterogeneity as one affected has atypical juvenile amyotrophic lateral sclerosis (ALS) and the other has classical hereditary spastic paraplegia with thin corpus callosum. Our findings confirm SPG11 as a genetic cause of juvenile amyotrophic lateral sclerosis and indicate that SPG11 mutations could be associated with 2 different clinical phenotypes within the same family.

Original languageEnglish (US)
Pages (from-to)839.e5-839.e9
JournalNeurobiology of aging
Volume33
Issue number4
DOIs
StatePublished - Jan 1 2012
Externally publishedYes

Fingerprint

Exome
Amyotrophic Lateral Sclerosis
Hereditary Spastic Paraplegia
Motor Neuron Disease
Mutation
Corpus Callosum
Nonsense Codon
Exons
Phenotype
Genes

Keywords

  • ARJALS
  • HSP-TCC
  • SPG11

ASJC Scopus subject areas

  • Neuroscience(all)
  • Aging
  • Clinical Neurology
  • Developmental Biology
  • Geriatrics and Gerontology

Cite this

Daoud, H., Zhou, S., Noreau, A., Sabbagh, M., Belzil, V., Dionne-Laporte, A., ... Rouleau, G. A. (2012). Exome sequencing reveals SPG11 mutations causing juvenile ALS. Neurobiology of aging, 33(4), 839.e5-839.e9. https://doi.org/10.1016/j.neurobiolaging.2011.11.012

Exome sequencing reveals SPG11 mutations causing juvenile ALS. / Daoud, Hussein; Zhou, Sirui; Noreau, Anne; Sabbagh, Mike; Belzil, Veronique; Dionne-Laporte, Alexandre; Tranchant, Christine; Dion, Patrick; Rouleau, Guy A.

In: Neurobiology of aging, Vol. 33, No. 4, 01.01.2012, p. 839.e5-839.e9.

Research output: Contribution to journalArticle

Daoud, H, Zhou, S, Noreau, A, Sabbagh, M, Belzil, V, Dionne-Laporte, A, Tranchant, C, Dion, P & Rouleau, GA 2012, 'Exome sequencing reveals SPG11 mutations causing juvenile ALS', Neurobiology of aging, vol. 33, no. 4, pp. 839.e5-839.e9. https://doi.org/10.1016/j.neurobiolaging.2011.11.012
Daoud H, Zhou S, Noreau A, Sabbagh M, Belzil V, Dionne-Laporte A et al. Exome sequencing reveals SPG11 mutations causing juvenile ALS. Neurobiology of aging. 2012 Jan 1;33(4):839.e5-839.e9. https://doi.org/10.1016/j.neurobiolaging.2011.11.012
Daoud, Hussein ; Zhou, Sirui ; Noreau, Anne ; Sabbagh, Mike ; Belzil, Veronique ; Dionne-Laporte, Alexandre ; Tranchant, Christine ; Dion, Patrick ; Rouleau, Guy A. / Exome sequencing reveals SPG11 mutations causing juvenile ALS. In: Neurobiology of aging. 2012 ; Vol. 33, No. 4. pp. 839.e5-839.e9.
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