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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.

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Authors+Show Affiliations

Venturi G
Department of Mother and Child, Biology and Genetics, University of Verona, Verona, Italy.
Tedeschi E
No affiliation info available
Mottes M
No affiliation info available
Valli M
No affiliation info available
Camilot M
No affiliation info available
Viglio S
No affiliation info available
Antoniazzi F
No affiliation info available
Tatò L
No affiliation info available

MeSH

AdolescentAdultChildChild, PreschoolCollagenCollagen Type IDNA Mutational AnalysisFemaleHumansInfantMaleMutationOsteogenesis ImperfectaPregnancy

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 -