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2005 | 46 | 1 | 105-108
Article title

Molecular findings in Brazilian patients with osteogenesis imperfecta

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Languages of publication
EN
Abstracts
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.
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Publisher

Year
Volume
46
Issue
1
Pages
105-108
Physical description
Contributors
References
Document Type
SHORT COMMUNICA
Publication order reference
Fernanda C. Reis, UNICAMP/CBMEG, Cidade Universit?ria Zeferino Vaz, Barao Geraldo, Campinas, Sao Paulo, Brazil
Identifiers
YADDA identifier
bwmeta1.element.element-from-psjc-5b5e31ef-42ea-366d-a169-030387731fcc
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