title: Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation.
abstract: A substitution of arginine for glycine at amino acid position 154 of the alpha 1(I) collagen chain was found in a father and his three children. The phenotype of the patients includes manifestations of types I and III/IV osteogenesis imperfecta, but appears to be milder than that of the previously described two unrelated patients that had the identical mutation in the alpha 1(I) collagen chain. The variability in the phenotype raises the possibility of epistatic loci or environmental effects on expression of the disorder.
authors.affiliation: Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
authors.forename: J
authors.initials: J
authors.lastname: Zhuang
authors.forename: G
authors.initials: G
authors.lastname: Tromp
authors.forename: H
authors.initials: H
authors.lastname: Kuivaniemi
authors.forename: S
authors.initials: S
authors.lastname: Castells
authors.forename: D J
authors.initials: DJ
authors.lastname: Prockop
mesh_terms: D000328:Adult; D001483:Base Sequence; D002675:Child, Preschool; D003094:Collagen / Q000737:chemistry / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D003094:Collagen