title: Recurrent mutations in the COL1A2 gene in patients with osteogenesis imperfecta.
abstract: A new recurrent point mutation in the COL1A2 gene was found in a patient with type III osteogenesis imperfecta (OI). A G-to-T transversion in nucleotide position 1121 leads to an amino acid substitution Gly238Cys. This is the first report on the most N-terminal cysteine substitution in COL1A2 reported so far. Until now, at this position, only serine substitutions were observed five times in unrelated patients showing a highly variable expression of OI. It is obvious that endogenic and/or exogenic modifiers are involved in this classical autosomal dominant (or rarely recessive) mendelian disorder. An apparent preferential substitution by cysteine and serine residues is discussed with reference to post-transcriptional or post-translational collagen assembly control.
authors.affiliation: Department of Medical Genetics, University of Ulm, Albert-Einstein-Allee 11, D-89081 Ulm, Germany.
authors.forename: T
authors.initials: T
authors.lastname: Trummer
authors.forename: R
authors.initials: R
authors.lastname: Brenner
authors.forename: W
authors.initials: W
authors.lastname: Just
authors.forename: W
authors.initials: W
authors.lastname: Vogel
authors.forename: I
authors.initials: I
authors.lastname: Kennerknecht
mesh_terms: D019943:Amino Acid Substitution; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D003094:Collagen / Q000235:genetics*; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005260:Female; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation
chemical_list: D018076:DNA, Complementary; D003094:Collagen