Disrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the alpha 2 (I) chain of type I collagen.
Open Access
- 1 November 1996
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 33 (11) , 968-971
- https://doi.org/10.1136/jmg.33.11.968
Abstract
The skeleton of a child with osteogenesis imperfecta type III, resulting from the substitution of glycine 586 by valine in the triple helical domain of the alpha 2 (I) chain of type I collagen, was severely porotic but contained lamellar bone and Haversian systems. From early childhood, structural failure of the bone resulted in the disruption of growth plates, progressive bone deformities, and severe growth retardation.Keywords
This publication has 17 references indexed in Scilit:
- A novel G1006A substitution in the α2(I) chain of type I collagen produces osteogenesis imperfecta type IIIHuman Mutation, 1995
- Craniocervical abnormalities in osteogenesis imperfecta: Genetic and molecular correlationPediatric Radiology, 1994
- Ultrastructural studies of bones from patients with osteogenesis imperfectaMatrix Biology, 1994
- Osteogenesis imperfecta: Comparison of molecular defects with bone histological changesBone, 1994
- Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfectaHuman Molecular Genetics, 1993
- SSCP detection of a Gly565Val substitution in the pro?(I) collagen chain resulting in osteogenesis imperfecta type IIHuman Genetics, 1993
- A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfectaHuman Genetics, 1992
- The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen.Journal of Medical Genetics, 1992
- Osteogenesis imperfecta: translation of mutation to phenotype.Journal of Medical Genetics, 1991
- Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneityAmerican Journal of Medical Genetics, 1986