title: Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia.
abstract: Patients with pseudoachondroplasia have a skeletal dysplasia with marked short stature. The most common cause of this condition is an autosomal dominant mutation, although autosomal recessive inheritance has been reported. Linkage to 2 cartilage-specific candidate genes, type II collagen (COL2A1) and proteoglycan link protein genes (CRTL1), was tested in 9 autosomal dominant families with pseudoachondroplasia. Tight linkage to these candidate genes was excluded with LOD scores for COL2A1 of -2.45 at theta = 0.05 and for CRTL1 of -7.28 at theta = 0.001. Discordant inheritance of the disease phenotype with each of these genes was also observed. Thus, these 2 candidate genes can be excluded as the cause of disease in these families.
authors.affiliation: Medical School, University of Texas Health Science Center, Houston.
authors.forename: J T
authors.initials: JT
authors.lastname: Hecht
authors.forename: S H
authors.initials: SH
authors.lastname: Blanton
authors.forename: Y
authors.initials: Y
authors.lastname: Wang
authors.forename: S P
authors.initials: SP
authors.lastname: Daiger
authors.forename: W A
authors.initials: WA
authors.lastname: Horton
authors.forename: C
authors.initials: C
authors.lastname: Rhodes
authors.forename: Y
authors.initials: Y
authors.lastname: Yamada
authors.forename: C A
authors.initials: CA
authors.lastname: Francomano
mesh_terms: D003094:Collagen / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D011509:Proteoglycans / Q000235:genetics*
chemical_list: D011509:Proteoglycans; D003094:Collagen