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Significance Chronic recurrent multifocal osteomyelitis (CRMO) is an autoinflammatory bone disease that presents with bone destruction occurring primarily in children. In a mouse ENU mutagenesis screen, theAli18 strain was isolated because of spontaneous inflammation in the joints and bones. Sequencing candidate genes in theAli18 critical region identified a missense mutation in the C-terminal regulatory region of the Src family kinase (SFK) member,Fgr . Genome editing revealedFgr dependency of the inflammatory phenotype inAli18 mice. Further, whole exome sequencing in our CRMO cohort identified two patients with missense mutations inFGR . In vitro functional assays confirm altered protein function. This work identifiesFGR as a CRMO susceptibility gene and suggests that targeting SFKs may be useful in its treatment.

Gain-of-function mutations in a member of the Src family kinases cause autoinflammatory bone disease in mice and humans