Type II collagen screening in the human chondrodysplasias.
Abnormalities of type II collagen have been considered strong candidates for causing human condrodysplasias. We have employed peptide mapping to screen for several types of type II colagen abnormalities in cartilage samples from 66 patients with 20 separate disorders. Except for achondrogenesis type II (Langer-Saldino) and spondyloepiphyseal dysplasia (SED) congenita in which abnormalities have been described and diastrophic dysplasia in which the changes were probably secondary, no abnormalities were detected. Within the limitations of the screening technique, the results combined with other data from the literature suggest that abnormalities of this molecule are not common causes of chondrodysplasias outside of the achondrogenesis type II-SED congenita family of disorders.
Horton
W A
WA
Department of Pediatrics, University of Texas, Health Science Center, Houston 77025.
Campbell
D
D
Machado
M A
MA
Chou
J
J
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D003094:Collagen / Q000032:analysis*; D004591:Electrophoresis, Polyacrylamide Gel; D005097:Exostoses, Multiple Hereditary / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D010449:Peptide Mapping
D003094:Collagen