1. Osteogenesis imperfecta: clinical, biochemical and molecular findings
- Author
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Maurizia Valli, Giacomo Venturi, Marta Camilot, Monica Mottes, Elisa Tedeschi, Luciano Tatò, Simona Viglio, and Franco Antoniazzi
- Subjects
Adult ,Male ,collagen I mutations ,Adolescent ,DNA Mutational Analysis ,Biology ,medicine.disease_cause ,Collagen Type I ,Pregnancy ,Genotype ,Genetics ,medicine ,Humans ,biochemistry ,Child ,Gene ,Genetics (clinical) ,Mutation ,Genetic heterogeneity ,Infant ,Osteogenesis Imperfecta ,medicine.disease ,Phenotype ,Osteochondrodysplasia ,Collagen Type I, alpha 1 Chain ,Osteogenesis imperfecta ,Child, Preschool ,Female ,Collagen ,Type I collagen - 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.
- Published
- 2006