Spondyloepiphyseal dysplasia in a Cape Town family: linkage with the gene for type II collagen (COL2A1).
A moderately severe form of autosomal dominant (AD) spondyloepiphyseal dysplasia (SED) has been documented in 14 individuals in 3 generations of a family in Cape Town, South Africa. Affected persons had a short trunk; radiographic investigations indicated that skeletal involvement was worst in the hips and spine. Linkage studies with restriction fragment length polymorphisms (RFLPs) associated with the COL2A1 gene and the phenotype yielded a maximal LOD score of 4.51 at theta = 0.00. This result suggests that the structural locus for type II collagen is primarily involved in the pathogenesis of this form of SED.
Ramesar
R
R
Department of Human Genetics, Medical School, University of Cape Town, South Africa.
Beighton
P
P
D000328:Adult; D000368:Aged; D003094:Collagen / Q000235:genetics*; D015342:DNA Probes; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009693:Nucleic Acid Hybridization; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D011859:Radiography; D013019:South Africa
D015342:DNA Probes; D003094:Collagen