New Form of Bone Disorder Disease Found

U.S. scientists say they’ve identified a new form of a brittle bone disorder and have determined the genetic defect that underlies osteogenesis imperfecta.

The disorder is characterized by bones that break easily, and is caused by mutations in the gene encoding the protein type I collagen. The classical form of the disease is dominant, meaning a mutation in only one copy of the type I collagen gene is sufficient to cause the disease.

But now Joan Marini and colleagues at the National Institute of Child Health and Human Development in Bethesda, Md., say they’ve identified a new recessive form of the disease, in which mutations of both copies of a gene are required.

The research is to appear in the March issue of the journal Nature Genetics.