title: Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita.
abstract: We report on monozygotic twins with short stature and severe spondyloepimetaphyseal dysplasia congenita (SEMDC) from the Polish population. Phenotype of the twin girls resembles spondyloepiphyseal dysplasia congenita Spranger-Wiedemann (SEDC-SW), but shortening of the stature is more severe and the cranioface is normal. The distinctive radiographic features, in spite of similarity to SEDC-SW, indicate different spinal and, notably, severe metaphyseal involvement. Molecular analysis of the COL2A1 gene revealed an A to G transition at nucleotide +79 of exon 41 that converted the codon for arginine at amino acid 792 to a codon for glycine (Arg792Gly). The twins were heterozygous for the mutation and neither parent had this change. The Arg792Gly substitution is located at the Y-position of Gly-X-Y triplet, and it is likely that this substitution decreased the thermal stability of the triple helix and may affect fibril growth by replacement of an arginine residue, which is important for a conformation of the triple helix.
authors.affiliation: Orthopaedic and Traumatology Division, Children's University Hospital, Cracow, Poland.
authors.forename: J
authors.initials: J
authors.lastname: Sulko
authors.forename: M
authors.initials: M
authors.lastname: Czarny-Ratajczak
authors.forename: A
authors.initials: A
authors.lastname: Wozniak
authors.forename: A
authors.initials: A
authors.lastname: Latos-Bielenska
authors.forename: K
authors.initials: K
authors.lastname: Kozlowski
mesh_terms: D019943:Amino Acid Substitution; D024043:Collagen Type II / Q000235:genetics*; D004252:DNA Mutational Analysis; D004200:Diseases in Twins / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D020125:Mutation, Missense; D010009:Osteochondrodysplasias / Q000151:congenital / Q000235:genetics*; D014430:Twins, Monozygotic / Q000235:genetics
chemical_list: D024043:Collagen Type II