Phenotypic variability and abnormal type I collagen unstable at body temperature in a family with mild dominant osteogenesis imperfecta
R. Tenni
Centro per lo Studio delle Malattie del Tessuto Connettivo, Dipartimento di Biochimica, University of Pavia, via Taramelli 3b, Pavia, 27100 Italy
Search for more papers by this authorP. Biglino
II Divisione Pediatria, Istituto ‘G. Gaslini’, Genova, 16148 Italy
Search for more papers by this authorK. Dyne
Centro per lo Studio delle Malattie del Tessuto Connettivo, Dipartimento di Biochimica, University of Pavia, via Taramelli 3b, Pavia, 27100 Italy
Search for more papers by this authorA. Rossi
Centro per lo Studio delle Malattie del Tessuto Connettivo, Dipartimento di Biochimica, University of Pavia, via Taramelli 3b, Pavia, 27100 Italy
Search for more papers by this authorM. Filocamo
Laboratorio III Divisione Pediatria, Istituto ‘G. Gaslini’, Genova, 16148 Italy
Search for more papers by this authorF. Pendola
II Divisione Pediatria, Istituto ‘G. Gaslini’, Genova, 16148 Italy
Search for more papers by this authorP. Brunelli
Ospedale dei Bambini, Ortopedia, Brescia, 25100 Italy
Search for more papers by this authorP. Buttitta
Ospedale dei Bambini ‘G. Di Cristina’, Divisione Neonatologia, Palermo, 90134 Italy
Search for more papers by this authorC. Borrone
II Divisione Pediatria, Istituto ‘G. Gaslini’, Genova, 16148 Italy
Search for more papers by this authorG. Cetta
Centro per lo Studio delle Malattie del Tessuto Connettivo, Dipartimento di Biochimica, University of Pavia, via Taramelli 3b, Pavia, 27100 Italy
Search for more papers by this authorR. Tenni
Centro per lo Studio delle Malattie del Tessuto Connettivo, Dipartimento di Biochimica, University of Pavia, via Taramelli 3b, Pavia, 27100 Italy
Search for more papers by this authorP. Biglino
II Divisione Pediatria, Istituto ‘G. Gaslini’, Genova, 16148 Italy
Search for more papers by this authorK. Dyne
Centro per lo Studio delle Malattie del Tessuto Connettivo, Dipartimento di Biochimica, University of Pavia, via Taramelli 3b, Pavia, 27100 Italy
Search for more papers by this authorA. Rossi
Centro per lo Studio delle Malattie del Tessuto Connettivo, Dipartimento di Biochimica, University of Pavia, via Taramelli 3b, Pavia, 27100 Italy
Search for more papers by this authorM. Filocamo
Laboratorio III Divisione Pediatria, Istituto ‘G. Gaslini’, Genova, 16148 Italy
Search for more papers by this authorF. Pendola
II Divisione Pediatria, Istituto ‘G. Gaslini’, Genova, 16148 Italy
Search for more papers by this authorP. Brunelli
Ospedale dei Bambini, Ortopedia, Brescia, 25100 Italy
Search for more papers by this authorP. Buttitta
Ospedale dei Bambini ‘G. Di Cristina’, Divisione Neonatologia, Palermo, 90134 Italy
Search for more papers by this authorC. Borrone
II Divisione Pediatria, Istituto ‘G. Gaslini’, Genova, 16148 Italy
Search for more papers by this authorG. Cetta
Centro per lo Studio delle Malattie del Tessuto Connettivo, Dipartimento di Biochimica, University of Pavia, via Taramelli 3b, Pavia, 27100 Italy
Search for more papers by this authorSummary
Autosomal dominant inheritance of a mild form of osteogenesis imperfecta (osteogenesis imperfecta type I) with different phenotypic expression was found in a family. Phenotypic expression was different for the affected mother and son, in the presence of the same biochemical results.
Dermal fibroblast cultures synthesized normal and mutant type I collagen α chains. Collagen heterotrimers containing abnormal chains were overmodified along the entire triple helical domain and showed an unusually low denaturation temperature, so far found only in lethal cases. The mild phenotype in the family is probably due to the fact that abnormal type I collagen molecules are more likely to be degraded than utilized in the extracellular matrix.
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