title: A novel mutation of IDS gene in a Chinese patient with mucopolysaccharidosis II by next-generation sequencing.
abstract: BACKGROUND
  Mucopolysaccharidosis (MPS) is induced by the absence or malfunctioning of lysosomal enzymes. MPS I and MPS II are similar in phenotypes but they are different in genotypes, which are caused by the deficiencies of alpha-L-iduronidase gene (IDUA) and iduronate 2-sulfatase gene (IDS) respectively. In this work, a 5-year-old Chinese young male with manifestations of MPS in a family with unaffected parents was described.
  
  
  METHODS
  12 kb of all the targeted exon sequences plus flanking sequences chromosomal DNA of IDS and IDUA genes from the proband and 20 other case-unrelated controls were captured and sequenced by using next-generation sequencing technology.
  
  
  RESULTS
  One single-nucleotide deletion variant (c.1270delG) resulting in frameshift and premature truncation of I2S enzyme was detected, out of 20 controls, only in the proband, and which was further verified by Sanger sequencing. The proband's mother was also proved carrying c.1270delG by Sanger method but not for his father.
  
  
  CONCLUSIONS
  The novel variant (c.1270delG) is a candidate disease-causing mutation predicted to affect the normal structure and function of the enzyme. Target sequence capture and next-generation sequencing technology can be effective for the gene testing of MPS II disorder.
authors.affiliation: Beijing Genomics Institute at Shenzhen, Shenzhen 518083, China.
authors.forename: Xiaoming
authors.initials: X
authors.lastname: Wei
authors.forename: Fan
authors.initials: F
authors.lastname: Jin
authors.forename: Yinghui
authors.initials: Y
authors.lastname: Ye
authors.forename: Chenming
authors.initials: C
authors.lastname: Xu
authors.forename: Ning
authors.initials: N
authors.lastname: Qu
authors.forename: Xiangchun
authors.initials: X
authors.lastname: Ju
authors.forename: Xin
authors.initials: X
authors.lastname: Yi
mesh_terms: D001483:Base Sequence; D016022:Case-Control Studies; D002675:Child, Preschool; D002681:China; D017931:DNA Primers; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D008297:Male; D016532:Mucopolysaccharidosis II / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; D007066:Iduronate Sulfatase