title: [Identification of a novel mutation IVS2-2A-->C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda].
abstract: OBJECTIVE
  To identify the mutation of spondyloepiphyseal dysplasia tarda (SEDL) gene in a large Chinese family with X-linked spondyloepiphyseal dysplasia tarda and to make a discussion on the pathogenesis of SEDL at the molecular level.
  
  
  METHODS
  In two patients, four exons comprising the SEDL open reading frame as well as their exon/intron boundaries were analyzed by bi-directional direct sequencing of PCR products. The sequencing results were compared against the normal sequences in GenBank to find the mutation. Then the mutation was identified in other members of the family.
  
  
  RESULTS
  A nucleotide substitution of the splice acceptor in SEDL intron 2, IVS2 -2A-->C,was detected in two affected individuals (IV(15)  V(3)) in the Chinese family with SEDL, but no sequence change occurring on exons 3-6 was detected. The transversion was also identified in four heterozygous carriers. The mutation was not found in two unaffected male individuals and fifteen normal controls. Furthermore, four potential carriers were identified in the family.
  
  
  CONCLUSIONS
  The mutation IVS2 -2A-->C of SEDL gene was firstly determined in the world. The change of the splice acceptor in SEDL intron 2 may cause skipping of exon 3  which is responsible for the disease. Molecular diagnosis can be made by detecting the mutation.
authors.affiliation: Paediatric Department of the First Affiliated Hospital, Zhengzhou University, Henan, PR China. gaochao39@371.net
authors.forename: Chao
authors.initials: C
authors.lastname: Gao
authors.forename: Qiang
authors.initials: Q
authors.lastname: Luo
authors.forename: Huai-li
authors.initials: HL
authors.lastname: Wang
authors.forename: Xiao-qun
authors.initials: XQ
authors.lastname: Gao
authors.forename: Qing-tang
authors.initials: QT
authors.lastname: Fan
authors.forename: Hua
authors.initials: H
authors.lastname: Wang
authors.forename: Guang-yao
authors.initials: GY
authors.lastname: Sheng
authors.forename: Jian-hua
authors.initials: JH
authors.lastname: Zhou
authors.forename: Tie-zheng
authors.initials: TZ
authors.lastname: Gao
mesh_terms: D017398:Alternative Splicing / Q000235:genetics; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D002681:China; D041321:Chromosomes, Human, X / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D014157:Transcription Factors
chemical_list: D002352:Carrier Proteins; D026901:Membrane Transport Proteins; C120759:TRAPPC2 protein, human; D014157:Transcription Factors; D004247:DNA