Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene. Issue 9 (1st September 2002)

• Record Type: Journal Article
• Authors: Eyre, S; Roby, P; Wolstencroft, K; Spreckley, K; Aspinwall, R; Bayoumi, R; Al-Gazali, L; Ramesar, R; Beighton, P; Wallis, G
• Is Part Of: Journal of medical genetics. Volume 39:Issue 9(2002)
• Page Start: 634
• Page End: 638
• Publication Date: 2002-09-01
• Subjects: chromosome 15q26.1 -- chondrodysplasia -- osteoarthritis -- aggrecan; SED, spondylometaphyseal dysplasia -- SED-K, spondylometaphyseal dysplasia type Kimberley -- AR, autosomal recessive -- MED, multiple epiphyseal dysplasia -- VNTR, variable number of tandem repeats -- SSCP, single stranded conformational polymorphism analysis; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.39.9.634
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : We have investigated a family with an autosomal dominant form of spondyloepiphyseal dysplasia (SED) characterised by short stature and severe premature degenerative arthropathy. Previous studies have excluded linkage between this condition and the locus for the type II collagen gene. Here we report the identification of linkage between this disorder and a locus on the long arm of chromosome 15 between markers D15S979 and D15S1004. According to current linkage maps and sequence data, this locus includes that of the aggrecan gene ( AGC1 ). Our linkage data from the SED family show, however, that AGC1 maps to a locus that is proximal to D15S979. This proximal location for AGC1 is further supported by linkage data from a second family with an autosomal recessive form of multiple epiphyseal dysplasia that also maps to the SED locus. In both families AGC1 is therefore excluded as a candidate gene.