J Med Genet 39:634-638 doi:10.1136/jmg.39.9.634
  • Original article

Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene

  1. S Eyre1,2,
  2. P Roby1,2,
  3. K Wolstencroft3,
  4. K Spreckley1,
  5. R Aspinwall1,
  6. R Bayoumi5,
  7. L Al-Gazali6,
  8. R Ramesar7,
  9. P Beighton7,
  10. G Wallis1,4
  1. 1The Wellcome Trust Centre for Cell-Matrix Research, University of Manchester, Manchester, UK
  2. 2Arthritis Research Campaign Epidemiology Research Unit, University of Manchester, Manchester, UK
  3. 3Bioinformatics Unit, University of Manchester, Manchester, UK
  4. 4Department of Medicine, University of Manchester, Manchester, UK
  5. 5Department of Biochemistry, Sultan Qaboos University, Muscat, Sultanate of Oman
  6. 6Department of Paediatrics, United Arab Emirates University, Al Ain, United Arab Emirates
  7. 7Department of Human Genetics, University of Cape Town, Cape Town, South Africa
  1. Correspondence to:
 Dr G A Wallis, School of Biological Sciences, University of Manchester, 2.205 Stopford Building, Oxford Road, Manchester M13 9PT, UK;
  • Accepted 25 April 2002
  • Revised 11 March 2002


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.