Molecular heterogeneity in the mild autosomal dominant forms of osteogenesis imperfecta

P. Tsipouras, A. L. Børresen, L. A. Dickson, K. Berg, D. J. Prockop, F. Ramirez

Research output: Contribution to journalArticlepeer-review

43 Scopus citations

Abstract

Mild osteogenesis imperfecta (OI type I and OI type IV) is characterized by postnatal onset of fractures, absence of skeletal deformity, presenile hearing loss with or without blue sclerae, and dentinogenesis imperfecta. Using one common DNA polymorphism associated with the proα2(I) human collagen gene, we found genetic heterogeneity in this disorder. In three families, the OI phenotype segregated independently of the DNA polymorphism, whereas in one family, the OI phenotype cosegregated with a DNA polymorphism in a manner suggesting linkage. Use of DNA polymorphisms associated with both type I procollagen genes should provide a tool to unravel the molecular heterogeneity of various heritable disorders of the connective tissue.

Original languageEnglish
Pages (from-to)1172-1179
Number of pages8
JournalAmerican Journal of Human Genetics
Volume36
Issue number6
StatePublished - 1984

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