Article
Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing.
The Journal of biological chemistry - 13 May 2005
Cabral Wayne A, Makareeva Elena, Colige Alain, Letocha Anne D, Ty Jennifer M, Yeowell Heather N, Pals Gerard, Leikin Sergey, Marini Joan C
Abstract excerpt
Patients with OI/EDS form a distinct subset of osteogenesis imperfecta (OI) patients. In addition to skeletal fragility, they have characteristics of Ehlers-Danlos syndrome (EDS). We identified 7 children with types III or IV OI, plus severe large and small joint laxity and early progressive scoliosis. In each child with OI/EDS, we identified a mutation in the first 90 residues of the helical region of alpha1(I)...
Topics
- ADAM Proteins
- ADAMTS Proteins
- ADAMTS4 Protein
- Adolescent
- Adult
- Amino Acid Sequence
- Calorimetry, Differential Scanning
- Cells, Cultured
- Child, Preschool
- Collagen