Molecular findings in Brazilian patients with osteogenesis imperfecta

• Authors: F.C. Reis , F. Alexandrino , C.E. Steiner , D.Y.J. Norato , D.P. Cavalcanti , E.L. Sartorato
• 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.

Keywords

EN

COLLAGEN; MUTATION; OSTEOGENESIS IMPERFECTA

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2005
• Volume: 46
• Issue: 1
• Pages: 105-108

Contributors

author

F.C. Reis

author

F. Alexandrino

author

C.E. Steiner

author

D.Y.J. Norato

author

D.P. Cavalcanti

author

E.L. Sartorato

• Document Type: SHORT COMMUNICA
• Publication order reference: Fernanda C. Reis, UNICAMP/CBMEG, Cidade Universit?ria Zeferino Vaz, Barao Geraldo, Campinas, Sao Paulo, Brazil