title: [Identification of a novel mutation of COL2A1 gene in a Chinese family affected with spondyloepiphyseal dysplasia congenita].
abstract: OBJECTIVE
  To identify potential disease-causing mutation in the COL2A1 gene in a Chinese family affected with autosomal dominant spondyloepiphyseal dysplasia congenita (SEDC; OMIM 183900) and to analyze the phenotype-genotype correlation.
  
  
  METHODS
  Complete physical, and radiographic examinations of 4 affected individuals from the family were conducted. Genomic DNA was isolated from peripheral blood leukocytes. Whole-exome sequencing was performed using a HiSeq2000 sequencer. All 54 exons and exon-intron boundaries of the COL2A1 gene were amplified by polymerase chain reaction (PCR) and bidirectionally sequenced.
  
  
  RESULTS
  All of the 4 individuals were found to carry a novel missense mutation of c.2224G>A (p.Gly687Ser) in the COL2A1 gene, while the same mutation was not found in the normal members of the family and 50 healthy controls. Protein prediction of missense mutation by Polyphen-2 and SIFT software indicated severe damage to the function.
  
  
  CONCLUSIONS
  The mutation c.2224G>A (p.Gly687Ser) of the COL2A1 gene is responsible for this family. There are heterozygous of phenotype for the mutation.
authors: Department of Orthopedics, Heping Hospital Affiliated To Changzhi Medical College, Changzhi, Shanxi 046000, P.R. China. 2264805213@qq.com.
authors: Hongzhuo
authors: H
authors: Li
authors: Aifang
authors: A
authors: Ji
authors: Liang
authors: L
authors: Ma
authors: Baozhu
authors: B
authors: Wang
authors: Yuan
authors: Y
authors: Li
authors: Yun
authors: Y
authors: Cui
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D024043:Collagen Type II / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010009:Osteochondrodysplasias / Q000151:congenital* / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation; D055815:Young Adult
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II