title: [Analysis of IDS gene mutation in a family affected with mucopolysaccharidosis typeⅡ].
abstract: OBJECTIVE
  To detect potential mutation of iduronate-2-sulfatase (IDS) gene in a family affected with mucopolysaccharidosis type Ⅱ (MPS Ⅱ).
  
  
  METHODS
  For the proband and his unaffected mother, the whole coding sequence of the IDS gene was analyzed with PCR and bidirectional Sanger sequencing.
  
  
  RESULTS
  A novel splicing mutation, c.709-1G>A, was detected in the proband, for which his mother was heterozygous.
  
  
  CONCLUSIONS
  The c.709-1G>A splicing mutation of the IDS gene is probably causative for the MSP Ⅱ in the proband. Prenatal diagnosis for the mutation may avoid birth of further child affected with this disease.
authors.affiliation: Prenatal Diagnosis Center, The First Affiliated Hospital, Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.
authors.forename: Yiying
authors.initials: Y
authors.lastname: Li
authors.forename: Shiyue
authors.initials: S
authors.lastname: Mei
authors.forename: Xiangdong
authors.initials: X
authors.lastname: Kong
authors.forename: Zhenhua
authors.initials: Z
authors.lastname: Zhao
authors.forename: Xiaofan
authors.initials: X
authors.lastname: Zhu
authors.forename: Xinyu
authors.initials: X
authors.lastname: Yang
authors.forename: Zhi
authors.initials: Z
authors.lastname: Qin
authors.forename: Han
authors.initials: H
authors.lastname: Wu
mesh_terms: D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics* / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics* / Q000378:metabolism; D008297:Male; D009035:Mothers; D016532:Mucopolysaccharidosis II / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D009154:Mutation
chemical_list: D006023:Glycoproteins; C018322:IDS protein, human; D007066:Iduronate Sulfatase