title: A novel mutation leading to elongation of the deduced α1(X) chain results in Metaphyseal Chondrodysplasia type Schmid.
abstract: BACKGROUND
  Metaphyseal Chondrodysplasia type Schmid (MCDS) is an autosomal dominant skeletal dysplasia, characterized by coxa vara, bowlegs, short limbs and an expanded growth plate hypertrophic zone of the long bone. Previous studies have shown gene mutation of COL10A1 (collagen X, consisting three a1(X) chain) causing human MCDS. To our knowledge, there has been no COL10A1 mutation leading to elongation of the deduced α1(X) chain reported.
  
  
  METHODS
  A four-generation Chinese family with 11 members affected by MCDS was investigated. Mutation screening of the COL10A1 gene was carried out.
  
  
  RESULTS
  Besides the typical MCDS features, we found an earlier onset age and a more frequently occurred knee joint pain history in the family. The following sequence analysis disclosed a novel frameshift mutation (c.2029delG) of COL10A1, which leads to the elongation of the deduced α1(X) chain by 5 amino acids and 4 amino acids substitution. This mutation was not found in all unaffected available members and 50 healthy controls.
  
  
  CONCLUSIONS
  This is a first report of a frameshift mutation leading to elongation of the deduced α1(X) chain associated with MCDS.
authors: The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute, Hunan Children's Hospital, University of South China, Changsha, China.
authors: Yimin
authors: Y
authors: Zhu
authors: Liping
authors: L
authors: Li
authors: Lijun
authors: L
authors: Zhou
authors: Haibo
authors: H
authors: Mei
authors: Ke
authors: K
authors: Jin
authors: Kun
authors: K
authors: Liu
authors: Wei
authors: W
authors: Xu
authors: Jinsong
authors: J
authors: Tang
authors: Yongjia
authors: Y
authors: Yang
authors: Rui
authors: R
authors: Zhao
authors: Xinyu
authors: X
authors: He
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D002675:Child, Preschool; D024121:Collagen Type X / Q000737:chemistry* / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics; D010375:Pedigree; D055815:Young Adult
chemical_list: D024121:Collagen Type X