title: A novel type X collagen gene mutation (G595R) associated with Schmid-type metaphyseal chondrodysplasia.
abstract: Metaphyseal chondrodysplasia of the Schmid type (MCDS) is a skeletal dysplasia affecting the long bone metaphyses; it is characterized by short stature, bowlegs, and coxa vara. The spine is generally not involved. Here we report a novel missense mutation of the type X collagen gene in a sporadic case of MCDS. The mutation was a heterozygous single base-pair transition of G-to-A at nucleotide 1783, which predicted a substitution of glycine by arginine at codon 595 (G595R) in the carboxyl-terminal noncollagenous domain. Interestingly, another mutation of the same codon, in which glycine is substituted by glutamic acid (G595E), was previously reported to cause spondylometaphyseal dysplasia (SMD), another group of skeletal dysplasias with involvement of the spine in addition to the long tubular bones. The novel G595R mutation identified in the present study supports the concept of type X collagenopathy.
authors.affiliation: Department of Orthopaedic Surgery, Osaka Medical Center and Research Institute for Maternal and Child Health, Japan. ymatsui@sam.hi-ho.ne.jp
authors.forename: Y
authors.initials: Y
authors.lastname: Matsui
authors.forename: N
authors.initials: N
authors.lastname: Yasui
authors.forename: H
authors.initials: H
authors.lastname: Kawabata
authors.forename: K
authors.initials: K
authors.lastname: Ozono
authors.forename: K
authors.initials: K
authors.lastname: Nakata
authors.forename: T
authors.initials: T
authors.lastname: Mizushima
authors.forename: N
authors.initials: N
authors.lastname: Tsumaki
authors.forename: E
authors.initials: E
authors.lastname: Kataoka
authors.forename: Y
authors.initials: Y
authors.lastname: Fujita
authors.forename: T
authors.initials: T
authors.lastname: Ochi
mesh_terms: D000293:Adolescent; D003094:Collagen / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007866:Leg / Q000000981:diagnostic imaging; D020125:Mutation, Missense; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011859:Radiography
chemical_list: D003094:Collagen