This genotype-phenotype investigation expands the catalog of CACP-causing variants and highlights mechanisms for interfamily variability, aiding in its differentiation from common childhood rheumatic diseases.
With this study, we contribute to the catalog of CACP causing variants. We confirm that the skeletal component of this disease worsens with age, and presents the potential mechanisms for interfamily variability, by discussing the influence of a modifier gene and escape from nonsense-mediated mRNA decay. We believe that this report will increase awareness of this familial arthropathic condition and the characteristic clinical and radiological findings will facilitate the differentiation from the common childhood rheumatic diseases such as juvenile idiopathic arthritis.
Yılmaz et al. (Sun,) studied this question.