title: [Mutation analysis of 11 Chinese patients with attenuated mucopolysaccharidosis type].
abstract: OBJECTIVE
  Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disease resulting from the deficiency in the lysosomal enzyme alpha-L-iduronidase (IDUA). The present study was conducted to identify IDUA gene mutations in attenuated (MPS I H/S and MPS I S) patients with MPS I in northern China.
  
  
  METHODS
  Fourteen exons with adjacent intronic sequences of the IDUA gene in 11 MPS I patients were amplified by polymerase chain reaction (PCR), and the PCR products were sequenced directly and origin analysis was conducted.
  
  
  RESULTS
  Seven mutations were detected in the 11 MPS I patients, i.e., c.236 C to T (p. A79V), c.266 G to A (p.R89Q), c.265 C to T (p.R89W), c.532G to A (p.E178K), c.589G to A (p.G197S), c.1037T to G (p.L346R), and c.1877 G to A (p.W626X). All of them were known mutations. Six patients were homozygotes and 1 was heterozygote with nonsense mutation. In addition, 9 reported single nucleotide polymorphism (SNP) were detected, i.e., p.A8, p.A20, p.H33Q, p.R105Q, p.A314, p. A361T, p.T388, p.T410 and p.V454I.
  
  
  CONCLUSIONS
  The mutation spectrum of the IDUA gene in attenuated MPS I Chinese patients may be different from that in patients from other countries.
authors.affiliation: Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730 P. R. China. pumch_wm@126.com
authors.forename: Xin-ning
authors.initials: XN
authors.lastname: WANG
authors.forename: Hui-ping
authors.initials: HP
authors.lastname: SHI
authors.forename: Wei-min
authors.initials: WM
authors.lastname: ZHANG
authors.forename: Zheng-qing
authors.initials: ZQ
authors.lastname: QIU
authors.forename: Yan
authors.initials: Y
authors.lastname: MENG
authors.forename: Feng-xia
authors.initials: FX
authors.lastname: YAO
authors.forename: Min
authors.initials: M
authors.lastname: WEI
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D007068:Iduronidase / Q000172:deficiency / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D008059:Mucopolysaccharidosis I / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA / Q000379:methods; D055815:Young Adult
chemical_list: D007068:Iduronidase