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.
Department of Human Genetics, Medical School, University of Cape Town, South Africa.
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Ramesar
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Beighton
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