X-linked early-onset osteoporosis is a rare disease, which is characterized by low bone mineral density (BMD), vertebral compression fractures (VCFs), and/or long bone fractures. In Jun 16, 2017, F. Lv and others published an article in << Osteoporosis International >> which title is“A novel large fragment deletion in PLS3 causes rare X-linked early-onset osteoporosis and response to zoledronic acid”. They identified a novel large fragment deletion from intron 9 to 3'UTR in PLS3 (E10-E16del) in one Chinese boy with X-linked early-onset osteoporosis and vertebral fractures, which expanded the pathogenic spectrum of X-linked early-onset osteoporosis and aimed to detect the phenotype and the underlying pathogenic mutation of X-linked early-onset osteoporosis in a boy from a nonconsanguineous Chinese family. Treatment with zoledronic acid was beneficial for increasing BMD and reshaping the vertebral bodies of this patient.
Read More
