Osteogenesis imperfecta - MedlinePlus
When caused by mutations in the COL1A1 or COL1A2 gene, osteogenesis imperfecta has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. Many people with type I or type IV osteogenesis imperfecta inherit a mutation from a parent who has the disorder. Most ...
Osteogenesis Imperfecta - StatPearls - NCBI Bookshelf
2023年2月6日 · This disorder is inherited in an autosomal dominant, autosomal recessive, or spontaneous mutation pattern. The autosomal dominant forms are caused by direct defects in type 1 collagen, while autosomal recessive forms are caused by non-collagenous proteins, which take part in post-translational modifications or triple helix formation.
COL1A1/2 Osteogenesis Imperfecta - GeneReviews® - NCBI Bookshelf
2005年1月28日 · Classic non-deforming osteogenesis imperfecta (OI), perinatally lethal OI, progressively deforming OI, and common variable OI caused by pathogenic variants in COL1A1 or COL1A2 are inherited in an autosomal dominant manner.
Genetic Causes and Mechanisms of Osteogenesis Imperfecta
Osteogenesis Imperfecta (OI) is a genetic disorder characterized by various clinical features including bone deformities, low bone mass, brittle bones, and connective tissue manifestations. The predominant cause of OI is due to mutations in the two genes that encode type I collagen.
Osteogenesis Imperfecta: What It Is, Symptoms & Types - Cleveland Clinic
Osteogenesis imperfecta (brittle bone disease) is a genetic disease that makes your bones thin and brittle. People with osteogenesis imperfecta break bones easily, with little or no force causing the break. It can also cause a curved spine, muscle weakness, difficulty breathing and other issues. The most common type causes mild symptoms.
About Osteogenesis Imperfecta - National Human Genome …
2017年7月5日 · Most types of OI are inherited in an autosomal dominant pattern. Almost all infants with the severe type II OI are born into families without a family history of the condition. Usually, the cause in these families is a new mutation in the egg or sperm or very early embryo in the COL1A1 or COL1A2 gene.
Osteogenesis Imperfecta - Endotext - NCBI Bookshelf
2020年7月26日 · Historically, osteogenesis imperfecta has been viewed as an autosomal dominant disorder of type I collagen, the major protein component in the extracellular matrix of bone. In the past decade, the OI paradigm has undergone a major shift with the identification of autosomal recessive forms.
Pathogenic mechanisms of osteogenesis imperfecta, evidence for ...
OI has a wide variety of causative genes, complex pathogenesis, and typing, and its mode of inheritance covers autosomal dominant (AD), autosomal recessive (AR), and X-linked recessive (XR) inheritance (Table 1). However, the current classification of OI is randomly classified into a type whenever a pathogenic gene is identified.
Osteogenesis imperfecta - The Lancet
This generalised connective tissue disorder has major manifestations in bone, leading to skeletal fragility and substantial growth deficiency. 4 Previously, osteogenesis imperfecta was known as an autosomal dominant disorder caused by mutations in COL1A1 and COL1A2, coding for the α1(I) and α2(I) chains of type I collagen, the most abundant ...
Update on the Genetics of Osteogenesis Imperfecta
2024年8月11日 · OI inheritance patterns include autosomal dominant and recessive, as well as an X-linked recessive form.