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Much medical research has been done into the causes of osteogenesis imperfecta, benefiting not only those with OI but medicine more broadly; in the ten years between 2006 and 2016, the many discoveries of non-collagen related recessive gene mutations, which still led in those who have them to the clinical signs of OI, led to numerous ...
Osteogenesis imperfecta usually involves autosomal dominant mutations to COL1A1 or COL1A2 which encode type 1 procollagen. [6] Bruck syndrome is linked to mutations in two genes, and therefore is divided in two types. Bruck syndrome type 1 is caused by a homozygous mutation in the FKBP10 gene. Type 2 is caused by a homozygous mutation in the ...
Osteogenesis imperfecta, type II: Many different types of mutations in the COL1A1 gene can cause osteogenesis imperfecta type II. These mutations range from missing pieces of the COL1A1 gene to amino acid substitutions, in which the amino acid glycine is replaced by another amino acid in the protein strand. Sometimes one end of the gene (called ...
Osteogenesis Imperfecta (types 1–4): Mutations in COL1alpha 1 and/or COL1alpha2 are known to cause several different types of Osteogenesis Imperfecta with the severity of said diseases being related to the type and frequency of the mutations occurring. [9] For further information on COL1's effect in this disease, see Collagen, type 1, alpha 1.
Mutations in this gene are associated with osteogenesis imperfecta, Cardiac-valvular, and Arthrochlasia type Ehlers-Danlos syndrome, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for alpha-1 type I collagen , since alpha-2 is ...
COL1A1/2-related osteogenesis imperfecta is inherited in an autosomal dominant manner. The proportion of cases caused by a De novo COL1A1 or COL1A2 mutations are the cause of osteogenesis imperfecta in the vast majority of perinatally lethal osteogenesis imperfecta, and progressively deforming osteogenesis imperfecta.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Osteogenesis imperfecta – Group of genetic disorders resulting in fragile bones, a condition characterized by bones breaking unusually easily, caused by mutations in genes related to those responsible for FOP; Progressive osseous heteroplasia – Rare genetic condition characterised by cutaneous or subcutaneous ossification