Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1.
Namaqualand spondyloepiphyseal dysplasia (NSED) is a mild autosomal dominant form of spondyloepiphyseal dysplasia in which changes are maximal in the femoral capital epiphyses and the vertebral bodies. The condition is present in a large multigeneration South African family, and it is clinically important by virtue of severe progressive degenerative osteoarthropathy of the hip joint, which frequently necessitates prosthetic joint replacement in adulthood. Linkage studies using molecular markers have shown that the loci for the NSED and type II collagen genes are linked (LOD score 7.98 at a recombination fraction of .00).
Sher
C
C
Department of Human Genetics, University of Cape Town Medical School, South Africa.
Ramesar
R
R
Martell
R
R
Learmonth
I
I
Tsipouras
P
P
Beighton
P
P
D000328:Adult; D000483:Alleles; D002648:Child; D002874:Chromosome Mapping; D003094:Collagen / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006621:Hip Joint / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D011859:Radiography; D011995:Recombination, Genetic; D015183:Restriction Mapping
D005819:Genetic Markers; D003094:Collagen; D004247:DNA