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Without intervention, patients with the most common mutations causing osteogenesis imperfecta have a 50% chance per gestation of passing on the disorder, as these mutations are inherited in an autosomal dominant pattern of Mendelian inheritance.
1277 12842 Ensembl ENSG00000108821 ENSMUSG00000001506 UniProt P02452 P11087 RefSeq (mRNA) NM_000088 NM_007742 RefSeq (protein) NP_000079 NP_031768 Location (UCSC) Chr 17: 50.18 – 50.2 Mb Chr 11: 94.83 – 94.84 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Collagen, type I, alpha 1, also known as alpha-1 type I collagen, is a protein that in humans is encoded by the COL1A1 gene ...
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.
Autosomal dominant pattern is the inheritance manner of this condition: Specialty: ... Osteogenesis imperfecta; Roberts syndrome; Short-rib polydactyly syndrome;
Locus heterogeneity may have major implications for a number of human diseases. For instance, it has been associated with retinitis pigmentosa, [4] hypertrophic cardiomyopathy, [5] osteogenesis imperfecta, [6] familial hypercholesterolemia, [7] and hearing loss. [8]
[2] [3] Multiple gene mutations associated with osteogenesis imperfecta are not seen in Bruck syndrome. Many affected individuals are within the same family, and pedigree data supports that the disease is acquired through autosomal recessive inheritance. [4]
Sillence created the standard four-type system of osteogenesis imperfecta in 1979. [8] It enabled progress into the molecular causes of the disorder and collagen mutations. In 2012, Sillence delivered the Human Genetics Society of Australasia Oration , a prestigious lecture in his field.
On the other hand, hereditary defects in structural proteins (such as osteogenesis imperfecta, Marfan's syndrome and many Ehlers–Danlos syndromes) are generally autosomal dominant, because it is enough that some components are defective to make the whole structure dysfunctional.