A loss of function mutation in the filaggrin gene associated with ichthyosis vulgaris and rheumatoid arthritis

Introduction Mutations in the filaggrin ( FLG) gene are known to cause ichthyosis vulgaris. Methods We used whole-genome sequencing (WGS) technology investigate genetic causes of rare and complex inherited diseases including rheumatoid arthritis, ichthyosis, congenital fibrosis extraocular muscles type 1 (CFEOM1) a Chinese family. WGS was performed four topics, identified candidate mutations were further verified through Sanger sequencing. Results mutation FLG (g.152280098 C>A, p.E2422∗) that may be associated with arthritis. Moreover, KIF21A (g.39726207 G>A, p.R954 W) also determined affected members as CFEOM1. The interaction network demonstrated an interesting correlation between genes arthritis ichthyosis. Functional enrichment analysis these interacting revealed several possible pathways might linked Conclusion In general, we confirmed loss function vulgaris this