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Molecular findings in Brazilian patients with osteogenesis imperfecta.
J Appl Genet. 2005; 46(1):105-8.JA

Abstract

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 a 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.

Authors+Show Affiliations

UNICAMP/CBMEG, Cidade Universitária Zeferino Vaz, Barăo Geraldo, Campinas, Săo Paulo, Brazil. reis@unicamp.brNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15741671

Citation

Reis, Fernanda C., et al. "Molecular Findings in Brazilian Patients With Osteogenesis Imperfecta." Journal of Applied Genetics, vol. 46, no. 1, 2005, pp. 105-8.
Reis FC, Alexandrino F, Steiner CE, et al. Molecular findings in Brazilian patients with osteogenesis imperfecta. J Appl Genet. 2005;46(1):105-8.
Reis, F. C., Alexandrino, F., Steiner, C. E., Norato, D. Y., Cavalcanti, D. P., & Sartorato, E. L. (2005). Molecular findings in Brazilian patients with osteogenesis imperfecta. Journal of Applied Genetics, 46(1), 105-8.
Reis FC, et al. Molecular Findings in Brazilian Patients With Osteogenesis Imperfecta. J Appl Genet. 2005;46(1):105-8. PubMed PMID: 15741671.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular findings in Brazilian patients with osteogenesis imperfecta. AU - Reis,Fernanda C, AU - Alexandrino,Fabiana, AU - Steiner,Carlos E, AU - Norato,Denise Y J, AU - Cavalcanti,Denise P, AU - Sartorato,Edi L, PY - 2005/3/3/pubmed PY - 2005/4/12/medline PY - 2005/3/3/entrez SP - 105 EP - 8 JF - Journal of applied genetics JO - J Appl Genet VL - 46 IS - 1 N2 - 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 a 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. SN - 1234-1983 UR - https://www.unboundmedicine.com/medline/citation/15741671/Molecular_findings_in_Brazilian_patients_with_osteogenesis_imperfecta_ L2 - https://www.diseaseinfosearch.org/result/5451 DB - PRIME DP - Unbound Medicine ER -