Molecular findings in Brazilian patients with osteogenesis imperfecta

• Autorzy: Reis F C , Alexandrino F , Steiner C E , Norato D Y J , Cavalcanti D P , Sartorato E L
• Języki publikacji: EN

Abstrakty

EN

Osteogenesis imperfecta (OI) is a genetic disorder of increased bone fragility and low bone mass. Severity varies widely, ranging from intrauterine fractures and perinatal lethality to very mild forms without fractures. Most patients with a clinical diagnosis of OI have a mutation in the COL1A1 or COL1A2 genes that encode the chains of type I procollagen, the major protein in bones. Hence, the aim of the present study was to identify mutations in the COL1A1 gene in 13 unrelated Brazilian OI patients. This is the first molecular study of OI in Brazil. We found 6 mutations, 4 of them novel (c.1885delG, p.P239A, p.G592S, p.G649D) and 2 previously described (p.R237X and p.G382S). Thus, the findings show that there are no prevalent mutations in our sample, and that their distribution is similar to that reported by other authors, with preponderance of substitutions for glycine in the triple helix domain, causing OI types II, III and IV.

Słowa kluczowe

EN

patient; human genetics; COL1A1 gene; type I collagen; bone fragility; mutation; COL1A2 gene; low bone mass; osteogenesis imperfecta; Brazilian patient

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2005
• Tom: 46
• Numer: 1
• Opis fizyczny: p.105-108,fig.,ref.

Twórcy

autor

Reis F C

• CBMEG/Human Genetics Laboratory, Cidade Universitaria Zeferino Vaz, Barao Geraldo, Campinas, Sao Paulo, Brazil

autor

Alexandrino F

• CBMEG/Human Genetics Laboratory, Cidade Universitaria Zeferino Vaz, Barao Geraldo, Campinas, Sao Paulo, Brazil

autor

Steiner C E

• Department of Medical Genetics/FCM, Cidade Universitaria Zeferino Vaz, Barao Geraldo, Campinas, Sao Paulo, Brazil

autor

Norato D Y J

• Department of Medical Genetics/FCM, Cidade Universitaria Zeferino Vaz, Barao Geraldo, Campinas, Sao Paulo, Brazil

autor

Cavalcanti D P

• Department of Medical Genetics/FCM, Cidade Universitaria Zeferino Vaz, Barao Geraldo, Campinas, Sao Paulo, Brazil

autor

Sartorato E L

• CBMEG/Human Genetics Laboratory, Cidade Universitaria Zeferino Vaz, Barao Geraldo, Campinas, Sao Paulo, Brazil

Bibliografia

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