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Osteogenesis imperfecta: clinical, biochemical and molecular findings.
Clin Genet. 2006 Aug; 70(2):131-9.CG

Abstract

Mutations in COL1A1 and COL1A2 genes, encoding the alpha1 and alpha2 chain of type I collagen, respectively, are responsible for the vast majority of cases of osteogenesis imperfecta (OI) (95% of patients with a definite clinical diagnosis). We have investigated 22 OI patients, representing a heterogeneous phenotypic range, at the biochemical and molecular level. A causal mutation in either type I collagen gene was identified in 20 of them: no recurrent mutation was found in unrelated subjects; 15 out of 20 mutations had not been reported previously. In two patients, we could not find any causative mutation in either type I collagen gene, after extensive genomic DNA sequencing. Failure of COL1A1/COL1A2 mutation screening may be due, in a few cases, to further clinical heterogeneity, i.e. additional non-collagenous disease loci are presumably involved in OI types beyond the traditional Sillence's classification.

Authors+Show Affiliations

Department of Mother and Child, Biology and Genetics, University of Verona, Verona, Italy.No affiliation info availableNo affiliation info availableNo 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

16879195

Citation

Venturi, G, et al. "Osteogenesis Imperfecta: Clinical, Biochemical and Molecular Findings." Clinical Genetics, vol. 70, no. 2, 2006, pp. 131-9.
Venturi G, Tedeschi E, Mottes M, et al. Osteogenesis imperfecta: clinical, biochemical and molecular findings. Clin Genet. 2006;70(2):131-9.
Venturi, G., Tedeschi, E., Mottes, M., Valli, M., Camilot, M., Viglio, S., Antoniazzi, F., & Tatò, L. (2006). Osteogenesis imperfecta: clinical, biochemical and molecular findings. Clinical Genetics, 70(2), 131-9.
Venturi G, et al. Osteogenesis Imperfecta: Clinical, Biochemical and Molecular Findings. Clin Genet. 2006;70(2):131-9. PubMed PMID: 16879195.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Osteogenesis imperfecta: clinical, biochemical and molecular findings. AU - Venturi,G, AU - Tedeschi,E, AU - Mottes,M, AU - Valli,M, AU - Camilot,M, AU - Viglio,S, AU - Antoniazzi,F, AU - Tatò,L, PY - 2006/8/2/pubmed PY - 2006/10/4/medline PY - 2006/8/2/entrez SP - 131 EP - 9 JF - Clinical genetics JO - Clin Genet VL - 70 IS - 2 N2 - Mutations in COL1A1 and COL1A2 genes, encoding the alpha1 and alpha2 chain of type I collagen, respectively, are responsible for the vast majority of cases of osteogenesis imperfecta (OI) (95% of patients with a definite clinical diagnosis). We have investigated 22 OI patients, representing a heterogeneous phenotypic range, at the biochemical and molecular level. A causal mutation in either type I collagen gene was identified in 20 of them: no recurrent mutation was found in unrelated subjects; 15 out of 20 mutations had not been reported previously. In two patients, we could not find any causative mutation in either type I collagen gene, after extensive genomic DNA sequencing. Failure of COL1A1/COL1A2 mutation screening may be due, in a few cases, to further clinical heterogeneity, i.e. additional non-collagenous disease loci are presumably involved in OI types beyond the traditional Sillence's classification. SN - 0009-9163 UR - https://www.unboundmedicine.com/medline/citation/16879195/Osteogenesis_imperfecta:_clinical_biochemical_and_molecular_findings_ L2 - https://doi.org/10.1111/j.1399-0004.2006.00646.x DB - PRIME DP - Unbound Medicine ER -