PT  - JOURNAL ARTICLE
AU  - S Eyre
AU  - P Roby
AU  - K Wolstencroft
AU  - K Spreckley
AU  - R Aspinwall
AU  - R Bayoumi
AU  - L Al-Gazali
AU  - R Ramesar
AU  - P Beighton
AU  - G Wallis
TI  - Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene
AID  - 10.1136/jmg.39.9.634
DP  - 2002 Sep 01
TA  - Journal of Medical Genetics
PG  - 634--638
VI  - 39
IP  - 9
4099  - http://jmg.bmj.com/content/39/9/634.short
4100  - http://jmg.bmj.com/content/39/9/634.full
SO  - J Med Genet2002 Sep 01; 39
AB  - 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.