A rare variant of RNF123 in familial ankylosing spondylitis causes dysfunction of osteoclast formation.

The article discusses a study on a rare but high-risk pathogenic variants within several ankylosing spondylitis (AS) families by whole-exome sequencing and whether the rare variants exist in a larger sample population. Topics include clinical characteristics and relationships of six patients in the study from different families, finding on the number of osteoclasts present in the sample treated with interferon (IFN)ß stimulation, and mutant that plays a pathogenic role in AS.