title: [Kniest dysplasia due to mutation of COL2A1 gene].
abstract: OBJECTIVE
  To detect potential mutation of COL2A1 gene in two children suspected for Kniest dysplasia.
  
  
  METHODS
  The 54 exons and splicing regions of the COL2A1 gene were amplified with PCR and the product was subjected to direct sequencing.
  
  
  RESULTS
  A missense mutation (c.905C>T, p.Ala302Val) was found in the coding region of the COL2A1 gene, which has been previously reported in abroad. The patients appeared to have short trunk dwarfism, enlarged joints and midface hypoplasia.
  
  
  CONCLUSIONS
  The probands are the first cases of Kniest dysplasia described in China, and so was the p.Ala302Val mutation.
authors.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou, Guangdong 510623, P.R.China. liliuxia@hotmail.com.
authors.forename: Moling
authors.initials: M
authors.lastname: Wu
authors.forename: Li
authors.initials: L
authors.lastname: Liu
authors.forename: Zhizi
authors.initials: Z
authors.lastname: Zhou
authors.forename: Huiying
authors.initials: H
authors.lastname: Sheng
authors.forename: Xi
authors.initials: X
authors.lastname: Yin
authors.forename: Xiuzhen
authors.initials: X
authors.lastname: Li
authors.forename: Jing
authors.initials: J
authors.lastname: Cheng
authors.forename: Yonglan
authors.initials: Y
authors.lastname: Huang
authors.forename: Yanna
authors.initials: Y
authors.lastname: Cai
authors.forename: Cuiling
authors.initials: C
authors.lastname: Li
authors.forename: Liping
authors.initials: L
authors.lastname: Fan
authors.forename: Hongsheng
authors.initials: H
authors.lastname: Liu
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D002681:China; D002972:Cleft Palate / Q000235:genetics*; D003095:Collagen Diseases / Q000235:genetics*; D024043:Collagen Type II / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics*; D005091:Exons; D005145:Face / Q000002:abnormalities*; D006801:Humans; D006819:Hyaline Membrane Disease / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D016366:Open Reading Frames; D010009:Osteochondrodysplasias / Q000235:genetics*; D012326:RNA Splicing
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II