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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.
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 genetics of Bruck syndrome differs from osteogenesis imperfecta. 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.
DI associated with Osteogenesis Imperfecta (OI). [2] [5] [10] Type of DI with similar dental abnormalities usually an autosomal dominant trait with variable expressivity but can be recessive if the associated osteogenesis imperfecta is of recessive type.
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.
autosomal dominant, autosomal recessive or X-linked recessive 2-6:100,000 Hermansky–Pudlak syndrome: ... Osteogenesis imperfecta: COL1A1, COL1A2, IFITM5: dominant
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]
Other conditions that can produce similar symptoms include mandibuloacral dysplasia, pyknodysostosis, osteogenesis imperfecta, and Hajdu-Cheney syndrome. [5] Treatment includes supportive measures such as a device to protect the skull and dental care. [5] Surgery may be performed to fix certain bone abnormalities. [4] Life expectancy is ...