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Whole exome sequencing in a Chinese family with neuromyelitis optica spectrum disorder
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Whole exome sequencing in a Chinese family with neuromyelitis optica spectrum disorder

Y. Chang, Q. Huang, Y. Wang, X. Sun, S. Yi, J. Bei, L. Peng, X. Hu, A. Kermode and W. Qiu
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
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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.

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