We propose a targeted sequencing of gene panels involved in adult’s rare bone diseases as osteopetrosis, osteoclerosis, Paget’s disease and bone fragility. We choose to use a hybrid capture method (Agilent) following by a sequencing on illumina sequencer.
We focus on genetic of idiopathic osteoporosis and bone condensation in young adult. Our aim is to find out novel genes by different approaches including large panel and exomes. To confirm their pathogenicity, we apply different techniques including Crispr cas9 and siRNA approaches from various models (mice, human cell lines).
Bone markers dosages are associated with the genetic analysis in order to complete or to guide the molecular diagnostic.The biological phenotype includes the following serum markers: beta crosslaps , TRAP5b, osteocalcin, sclerostin, Bone Alkaline Phosphatases and P1NP.