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Osteogenesis imperfecta: clinical, biochemical and molecular findings
Author(s) -
Venturi G,
Tedeschi E,
Mottes M,
Valli M,
Camilot M,
Viglio S,
Antoniazzi F,
Tatò L
Publication year - 2006
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2006.00646.x
Subject(s) - osteogenesis imperfecta , mutation , genetics , type i collagen , gene , phenotype , biology , genetic heterogeneity , genomic dna , osteochondrodysplasia , disease , medicine , pathology , endocrinology
Mutations in COL1A1 and COL1A2 genes, encoding the α1 and α2 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.