title: Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome.
abstract: We report seven children from three families who had a set of common clinical features suggestive of Larsen-like syndrome, including unusual facies, bilateral dislocations of the knees and elbows, club foot, and short stature. All of the patients originated from the island of La Réunion in the Indian Ocean. The occurrence of several affected sibs in these families and the large number of consanguineous marriages on this island are consistent with autosomal recessive inheritance of the disease. Based on this hypothesis, the pedigrees were used for linkage analysis in a candidate gene assay. Lod score calculations in a pairwise study with four different fibrillar collagen genes, COL1A1, COL1A2, COL3A1, and COL5A2, allowed us to exclude these genes as the mutant loci. Supporting this, electrophoretic analysis of collagens derived from fibroblast cultures failed to show defective molecules. We conclude that this syndrome is not a collagen disorder.
authors.affiliation: CNRS URA 584, Clinique M Lamy, Hôpital des Enfants Malades, Paris, France.
authors.forename: J
authors.initials: J
authors.lastname: Bonaventure
authors.forename: C
authors.initials: C
authors.lastname: Lasselin
authors.forename: J
authors.initials: J
authors.lastname: Mellier
authors.forename: L
authors.initials: L
authors.lastname: Cohen-Solal
authors.forename: P
authors.initials: P
authors.lastname: Maroteaux
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D003094:Collagen / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007593:Joint Instability / Q000235:genetics*; D008126:Lod Score; D008297:Male; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D013577:Syndrome
chemical_list: D003094:Collagen