Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease.

ABSTRACT:

Background

Cortical-bone fragility is a common feature in osteoporosis that is linked to nonvertebral fractures. Regulation of cortical-bone homeostasis has proved elusive. The study of genetic disorders of the skeleton can yield insights that fuel experimental therapeutic approaches to the treatment of rare disorders and common skeletal ailments.

Methods

We evaluated four patients with Pyle's disease, a genetic disorder that is characterized by cortical-bone thinning, limb deformity, and fractures; two patients were examined by means of exome sequencing, and two were examined by means of Sanger sequencing. After a candidate gene was identified, we generated a knockout mouse model that manifested the phenotype and studied the mechanisms responsible for altered bone architect

SUBMITTER: Kiper POS 

PROVIDER: S-EPMC5070790 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature