Whole Exome Sequencing of IOP family members

Idiopathic osteoporosis (IOP) is a rare form of early onset osteoporosis diagnosed in patients with no known metabolic or hormonal cause of bone loss. The pathogeneses are variable and remain under investigation. IOP patients commonly report both childhood fractures and family history of osteoporosis, raising the possibility of genetic etiologies of IOP. Genetic studies of cohorts with IOP have identified likely pathogenic variants in only a minority of the individuals studied. This study focused on identification of possible novel genetic contributors to IOP.