Conference presentation
Whole exome sequencing in a Chinese family with neuromyelitis optica spectrum disorder
9th Congress of the Pan-Asian Committee for Treatment and Research in Multiple Sclerosis (PACTRIMS) 2016 (Bangkok, Thailand, 27/10/2016–29/10/2016)
2016
Abstract
Background: Little is known about the underlying genetic basis of neuromyelitis optica spectrum disorder (NMOSD).
Objective: To identify the causative gene in a Chinese family with NMOSD.
Methods: Whole-exome sequencing was performed in 4 members of this family(2 with NMOSD, and 2 family controls), supplemented by independent HLA-DP genotyping.
Results: One mutation chr6:42902216,G>A within the CNPY3 gene, which co-segregated with the NMOSD phenotype in this pedigree was identified. CNPY3 gene encodes the protein which is associated with toll-like receptors function. It may involve in the NMOSD pathogenesis by changing the activity of TLRs. There was no HLA-DP allele co-segregated with the NMOSD phenotype found in this family.
Conclusions: CNPY3 gene was implicated as a novel gene mutated in a Chinese family with NMOSD. Replication studies in other familial NMOSD cases and case-control studies are undergoing to verify the preliminary association.
Details
- Title
- Whole exome sequencing in a Chinese family with neuromyelitis optica spectrum disorder
- Authors/Creators
- Y. Chang (Author/Creator)Q. Huang (Author/Creator)Y. Wang (Author/Creator)X. Sun (Author/Creator)S. Yi (Author/Creator)J. Bei (Author/Creator)L. Peng (Author/Creator)X. Hu (Author/Creator)A. Kermode (Author/Creator)W. Qiu (Author/Creator)
- Conference
- 9th Congress of the Pan-Asian Committee for Treatment and Research in Multiple Sclerosis (PACTRIMS) 2016 (Bangkok, Thailand, 27/10/2016–29/10/2016)
- Identifiers
- 991005543837207891
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Conference presentation
- Additional Information
- Poster
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