X-linked Osteoporosis due to PLS3 Pathogenic Variant: Case Report on Zoledronic Acid Treatment in Siblings.

Abstract

Osteoporosis in children is a rare condition, often associated with genetic factors. Monogenic forms of osteoporosis linked to the X chromosome are often related to mutations in the gene encoding plastin 3 (PLS3). PLS3 is a protein involved in actin bundle formation in the cytoskeletonWe present two brothers with recurrent peripheral fractures and vertebral compression fractures, both associated with low bone mineral density (BMD). The patients shared the same deletion (c.589_590) in PLS3 on Xq23, which was confirmed by next-generation sequencing. They were treated with zoledronic acid, calcium, and vitamin D, showing optimal improvement in bone mineral density, a reduction in bone fractures, and enhanced quality of life.