Is type 2 osteogenesis imperfecta dominant or recessive?
OI type IIA is caused by mutations of the COL1A1 and COL1A2 genes (17q21. 31-q22 and 7q22. 1 respectively) and transmission is autosomal dominant . Type IIB can be autosomal dominant and also caused by mutations of the COL1A1 and COL1A2 genes (17q21.
What is COL1A1 gene mutation?
Mutations in the COL1A1 gene have been found to cause several forms of Ehlers-Danlos syndrome, a group of disorders that affect the connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. These mutations occur in one copy of the COL1A1 gene in each cell.
What is Type 2 osteogenesis imperfecta?
Osteogenesis Type II (COL1A1 or COL1A2) OI type II is the most severe type of osteogenesis imperfecta. Affected infants often experience life-threatening complications at birth or shortly after. Infants with OI type II have low birth weight, abnormally short arms and legs and blue sclera.
What is Type 3 osteogenesis imperfecta?
Type III osteogenesis imperfecta — people with type III OI usually will be shorter than their peers, and may have severe bone deformities, breathing problems (which can be life-threatening), brittle teeth, a curved spine, ribcage deformities, and other problems.
What chromosome is COL1A1 on?
Gene. The COL1A1 gene is located on the long (q) arm of chromosome 17 between positions 21.3 and 22.1, from base pair 50183289 to base pair 50201632.
Why is OI type 2 lethal?
Generally, there is a correlation between the clinical features and genetic mutation. OI type II is the most severe form. It is a lethal form with collagen abnormalities resulting in dwarfism, bone fragility and deformity with in utero or perinatal death [2].
Where is the COL1A1 gene located?
What is the difference between COL1A1 and COL1A2?
COL1A1 gene mutations are more pathogenic and cause OI more often than COL1A2 gene mutations. One third of glycine (Gly) substitutions in the COL1A1 gene are lethal, whereas only 1/5 of Gly pathogenic variants in the COL1A2 gene are fatal [5].
How is osteogenesis imperfecta type 2 diagnosed?
Type 2 which is a lethal form of oi gives intrauterine signs. It can be diagnosed while performing routine ultrasonography. The disorder is characterized by early prenatal onset of severe bone shortening and bowing due to multiple fractures affecting all long bones and ribs and poor mineralization of the skull.
What causes OI Type 3?
OI type III is caused by changes ( mutations ) in the COL1A1 or COL1A2 genes and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.
Can brittle bone disease be cured?
There is no cure for brittle bone disease, but treatment can relieve symptoms, prevent breakage of bones, and maximize movement. Severe forms of the disease can affect the shape of the rib cage and spine, which can lead to life-threatening breathing problems.
What is the FBN1 gene?
The FBN1 gene provides instructions for making a large protein called fibrillin-1. This protein is transported out of cells into the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells.
What is col1a1/2 osteogenesis imperfecta (OI)?
COL1A1/2 osteogenesis imperfecta ( COL1A1/2 -OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss.
What causes osteogenesis imperfecta type 1?
Most of the mutations that cause osteogenesis imperfecta type 1 occur in the COL1A1 gene. These genetic changes reduce the amount of type I collagen produced in the body, which causes bones to be brittle and to fracture easily.
Is osteogenesis imperfecta autosomal dominant or recessive?
Most of the mutations that cause osteogenesis imperfecta type 1 occur in the COL1A1 gene. These genetic changes reduce the amount of type I collagen produced in the body, which causes bones to be brittle and to fracture easily. OI type 1 exhibits an autosomal dominant pattern of inheritance.
What is the COL1A1 gene?
The COL1A1 gene provides instructions for making part of a large molecule called type I collagen. Collagens are a family of proteins that strengthen and support many tissues in the body, including cartilage, bone, tendon, skin, and the white part of the eye (the sclera). Type I collagen is the most abundant form of collagen in the human body.