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Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene.
J Med Genet. 2002 Sep; 39(9):634-8.JM

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.

Authors+Show Affiliations

The Wellcome Trust Centre for Cell-Matrix Research, University of Manchester, Manchester, UK.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

12205105

Citation

Eyre, S, et al. "Identification of a Locus for a Form of Spondyloepiphyseal Dysplasia On Chromosome 15q26.1: Exclusion of Aggrecan as a Candidate Gene." Journal of Medical Genetics, vol. 39, no. 9, 2002, pp. 634-8.
Eyre S, Roby P, Wolstencroft K, et al. Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene. J Med Genet. 2002;39(9):634-8.
Eyre, S., Roby, P., Wolstencroft, K., Spreckley, K., Aspinwall, R., Bayoumi, R., Al-Gazali, L., Ramesar, R., Beighton, P., & Wallis, G. (2002). Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene. Journal of Medical Genetics, 39(9), 634-8.
Eyre S, et al. Identification of a Locus for a Form of Spondyloepiphyseal Dysplasia On Chromosome 15q26.1: Exclusion of Aggrecan as a Candidate Gene. J Med Genet. 2002;39(9):634-8. PubMed PMID: 12205105.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene. AU - Eyre,S, AU - Roby,P, AU - Wolstencroft,K, AU - Spreckley,K, AU - Aspinwall,R, AU - Bayoumi,R, AU - Al-Gazali,L, AU - Ramesar,R, AU - Beighton,P, AU - Wallis,G, PY - 2002/9/3/pubmed PY - 2002/11/26/medline PY - 2002/9/3/entrez SP - 634 EP - 8 JF - Journal of medical genetics JO - J Med Genet VL - 39 IS - 9 N2 - 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. SN - 1468-6244 UR - https://wwww.unboundmedicine.com/medline/citation/12205105/Identification_of_a_locus_for_a_form_of_spondyloepiphyseal_dysplasia_on_chromosome_15q26_1:_exclusion_of_aggrecan_as_a_candidate_gene_ L2 - https://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=12205105 DB - PRIME DP - Unbound Medicine ER -