1. Analysis of NOD-like receptor NLRP1 in multiple sclerosis families.
- Author
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Bernales, Cecily Q., Encarnacion, Mary, Criscuoli, Maria G., Yee, Irene M., Traboulsee, Anthony L., Sadovnick, A. Dessa, and Vilariño-Güell, Carles
- Subjects
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MULTIPLE sclerosis , *MELANOMA , *EXOMES , *GENETIC carriers , *HAPLOTYPES - Abstract
The implementation of exome sequencing technologies has started to unravel the genetic etiology of familial multiple sclerosis (MS). A homozygote p.G587S mutation in
NLRP1 has been suggested as potentially causative for the onset of MS in an affected sibling pair, who later developed malignant melanoma. To validate the proposed role of recessiveNLRP1 mutations in the pathological mechanisms of MS, we examined exome sequencing data from 326 MS patients from Canada for the identification ofNLRP1 missense and nonsense variants. This analysis did not identify the previously described p.G587S mutation; however, three patients with potentialNLRP1 compound heterozygote mutations were observed. Haplotype and segregation analyses indicate that the variants observed in these patients were inherited in cis, and do not segregate with disease within families. Thus, the analysis of MS patients from Canada failed to identify potentially pathogenic mutations inNLRP1 , including the previously described p.G587S mutation. Further studies are necessary to confirm a role ofNLRP1 in the pathophysiology of MS. [ABSTRACT FROM AUTHOR]- Published
- 2018
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