What do you need to know about osteogenesis imperfecta?

Osteogenesis Imperfecta. What You Need to Know. Osteogenesis imperfecta (OI) is an inherited (genetic) bone disorder that is present at birth. It is also known as brittle bone disease. A child born with OI may have soft bones that break (fracture) easily, bones that are not formed normally, and other problems.

Which genetic mutations cause osteogenesis imperfecta (Om)?

A family with recessive osteogenesis imperfecta has been reported to have a mutation in the TMEM38B gene on chromosome 9. This gene encodes TRIC-B, a component of TRIC, a monovalent cation -specific channel involved in calcium release from intracellular stores.

How effective are bisphosphonates for osteogenesis imperfecta (OI)?

Bisphosphonates are especially effective in children, however it is unclear if they either increase quality of life or decrease the rate of fracture incidence. OI affects only about one in 15,000 to 20,000 people, making it a rare genetic disease. Outcomes depend on the genetic cause of the disorder (its type).

Is osteogenesis imperfecta type XIX X-linked or recessive?

Osteogenesis imperfecta type XIX is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell.

Is osteogenesis imperfecta (OI) autosomal dominant or dominant?

Osteogenesis imperfecta (OI) types I, II, III, IV, V and VI, are inherited in an autosomal dominant manner. [5] [1] This means that having only one changed ( mutated ) copy of the responsible gene in each cell is enough to cause features of OI.

What genes are involved in osteoporosis?

Mutations in the COL1A1 and COL1A2 genes cause approximately 90 percent of all cases. These genes provide instructions for making proteins that are used to assemble type I collagen. This type of collagen is the most abundant protein in bone, skin, and other connective tissues that provide structure and strength to the body.