title: Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.
abstract: Type X collagen is a short chain collagen expressed in hypertrophic chondrocytes during bone growth. A 13bp deletion has been shown to segregate with Schmid metaphyseal chondrodysplasia, an autosomal dominant disorder of the osseous skeleton, in a large Mormon kindred. To increase our understanding of the role type X collagen plays in development we have used SSCP analysis to identify three additional mutations in patients with Schmid metaphyseal chondrodysplasia. Two are frameshift mutations (1856delC and 1992delCT) and one is a missense mutation (C591R). Of interest, the apparently unaffected mother of the patient with the missense mutation is a somatic mosaic for the mutant allele. All three mutations are in the carboxy-terminal non-collagenous domain suggesting that the effect of these mutations is to impair the mutant polypeptide's ability to participate in chain association and trimer formation.
authors.affiliation: Department of Medicine, Johns Hopkins School of Medicine, Baltimore, MD 21287.
authors.forename: I
authors.initials: I
authors.lastname: McIntosh
authors.forename: M H
authors.initials: MH
authors.lastname: Abbott
authors.forename: M L
authors.initials: ML
authors.lastname: Warman
authors.forename: B R
authors.initials: BR
authors.lastname: Olsen
authors.forename: C A
authors.initials: CA
authors.lastname: Francomano
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D003094:Collagen / Q000737:chemistry / Q000145:classification / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D016368:Frameshift Mutation; D005796:Genes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009030:Mosaicism; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D011110:Polymorphism, Genetic; D017384:Sequence Deletion
chemical_list: D003094:Collagen