Phenotypic variability and abnormal type I collagen unstable at body temperature in a family with mild dominant osteogenesis imperfecta

R. Tenni, P. Biglino, K. Dyne, A. Rossi, M. Filocamo, F. Pendola, P. Brunelli, P. Buttitta, C. Borrone, G. Cetta

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)189-201
Number of pages13
JournalJournal of Inherited Metabolic Disease
Volume14
Issue number2
DOIs
Publication statusPublished - Mar 1991

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

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