Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain.
Clinical and biochemical findings in 5 unrelated patients with osteogenesis imperfecta (OI) with a serine for glycine substitution in the alpha2(I) collagen chain are presented. The data are compared to other serine substitutions in collagen type I. Findings show that the phenotypic severity of serine for glycine substitutions in the alpha2(I) collagen chain is region dependent similar to the observations for the alpha1(I) collagen chain, and that so-called 'lethal' and 'non-lethal' domains in the alpha1 and alpha2 collagen chains do not necessarily correspond.
Nuytinck
L
L
Centre for Medical Genetics, University Hospital Ghent, Belgium. Lieve.Nuytinck@rug.ac.be
Wettinck
K
K
Freund
M
M
Van Maldergem
L
L
Fabry
G
G
De Paepe
A
A
D000328:Adult; D003094:Collagen / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging; D005347:Fibroblasts / Q000166:cytology / Q000378:metabolism; D005998:Glycine / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010013:Osteogenesis Imperfecta / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D010449:Peptide Mapping; D010641:Phenotype; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012313:RNA / Q000032:analysis; D011859:Radiography; D012694:Serine / Q000235:genetics
D012694:Serine; D012313:RNA; D003094:Collagen; D005998:Glycine