Article
A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases.
Journal of medical genetics - 1 Jan 2002
Pace J M, Chitayat D, Atkinson M, Wilcox W R, Schwarze U, Byers P H
Abstract excerpt
Osteogenesis imperfecta (OI) is characterised by brittle bones and caused by mutations in the type I collagen genes, COL1A1 and COL1A2. We identified a mutation in the carboxyl-terminal propeptide coding region of one COL1A1 allele in an infant who died with an OI phenotype that differed from the usual lethal form and had regions of increased bone density. The newborn female had dysmorphic facial features,...
Topics
- Amino Acid Substitution
- Aspartic Acid
- Bone Density
- Bone Diseases
- Cell Line
- Cells, Cultured
- Collagen Type I
- Female
- Genes, Lethal
- Humans
- Infant, Newborn