title: [Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda].
abstract: OBJECTIVE
  To explore the molecular mechanism for a family with hereditary X-linked spondyloepiphysealdysplasia tarda (SEDT).
  
  
  METHODS
  For 3 affected males and 2 obligate carrier females from the family, exons 3 to 6 of SEDL gene were amplified with PCR and sequenced.
  
  
  RESULTS
  In the three patients, a deletional mutation (c.267_271delAAGAC) in exon 5 has been identified, which has caused frameshift of the protein product.
  
  
  CONCLUSIONS
  c.267_271delAAGAC frameshift mutation of the exon 5 of the SEDL gene probably underlies the disease in this family.
authors.affiliation: Centre for Laboratory Medicine, the First Affiliated Hospital of Lanzhou University, Lanzhou, Gansu 730000, P.R.China. lj67629@163.com.
authors.forename: Juan
authors.initials: J
authors.lastname: Li
authors.forename: Xiaojing
authors.initials: X
authors.lastname: Chai
authors.forename: Li
authors.initials: L
authors.lastname: Lu
authors.forename: Jiang
authors.initials: J
authors.lastname: Zhu
authors.forename: Xiaoyun
authors.initials: X
authors.lastname: Du
authors.forename: Li
authors.initials: L
authors.lastname: Zhao
mesh_terms: D001483:Base Sequence; D002648:Child; D002681:China; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree; D017384:Sequence Deletion; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D026901:Membrane Transport Proteins; C120759:TRAPPC2 protein, human; D014157:Transcription Factors