Caused by a change in one nucleotide in genes for collagen type I

Symptoms include spontaneous fractures and cardiac insufficiency

Type I is associated with bone fragility

CIL1A1 point mutations determine a reduction in the production of Type I collagen required for normal ossification.

Brittle Bone Syndrome

Bones easily bend and fracture

Mutation involves substitution of single amino acids with bulky side chains

Type I – OI tarda – prenatal fractures of long bones