Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta
نویسندگان
چکیده
منابع مشابه
Dentinogenesis imperfecta associated with osteogenesis imperfecta: report of two cases.
Osteogenesis imperfecta (OI) is a heritable systemic disorder of the connective tissue. Dentinogenesis imperfecta (DI), which is sometimes an accompanying symptom of OI, belongs to a group of genetically conditioned dentin dysplasias and is characterized clinically by an opalescent amber appearance of the dentin. Although the teeth of DI cases wear more easily and excessively compared to normal...
متن کاملMutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III.
Although over 85% of osteogenesis imperfecta (OI) cases are associated with mutations in the procollagen type I genes (COL1A1 or COL1A2), no hot spots for the mutations were associated with particular clinical phenotypes. Eight patients that were studied here, diagnosed with OI by clinical standards, are from the Polish population with no ethnic background indicated. Previously unpublished muta...
متن کاملOsteogenesis imperfecta/lobstein syndrome associated with dentinogenesis imperfecta.
Osteogenesis imperfecta is a collagen related disorder characterized by increased bone fragility and low bone mass. The important oral finding in osteogenesis imperfect is the presence of dentinogenesis imperfecta. This article presents a case of osteogenesis imperfecta (type IV B) with dentinogenesis imperfecta where a 7-year-old girl had opalacent primary teeth associated with severe bone def...
متن کاملTrigeminal neuralgia associated with osteogenesis imperfecta.
A 21 year old man with severe osteogenesis imperfecta developed classic right maxillary trigeminal neuralgia. Brain imaging showed pronounced basilar invagination, which was probably responsible for the pain through distortion of the trigeminal sensory root secondary to displacement of the brainstem. Osteogenesis imperfecta may be added to Paget's disease as a potential cause of symptomatic tri...
متن کاملMutations in FKBP10 Cause Recessive Osteogenesis Imperfecta and Bruck Syndrome
Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue characterized by bone fragility and alteration in synthesis and posttranslational modification of type I collagen. Autosomal dominant OI is caused by mutations in the genes (COL1A1 or COL1A2) encoding the chains of type I collagen. Bruck syndrome is a recessive disorder featuring congenital contractures in addition to bone ...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2020
ISSN: 1750-1172
DOI: 10.1186/s13023-020-01361-4