title: [Mutation analysis of mucopolysaccharidosis type II and prenatal diagnosis].
abstract: OBJECTIVE
  To analyze the mutations of IDS gene in a mucopolysaccharidosis type II (MPSII) family and to make prenatal diagnosis on the high-risk fetus which has been pregnant for eleven weeks.
  
  
  METHODS
  IDS gene was analyzed by bidirectional DNA sequencing in 2 patients and their mother, and 5 unaffected individuals. Prenatal diagnosis for the high-risk fetus was performed by chorionic villus sampling after the genotypes was identified.
  
  
  RESULTS
  The mutation c.344delA (N115fsX15) was detected in the two patients, and the mother of patients carried the heterozygous c.344delA (N115fsX15) mutation. None of the mutant was detected in the 5 unaffected subjects. The fetus carried c.344delA (N115fsX15) heterozygous mutation and was a carrier.
  
  
  CONCLUSIONS
  The deletion mutation c.344delA (N115fsX15) is causative to the pedigree of MPSII, and prenatal diagnosis is the efficient method to avoid defect birth.
authors.affiliation: Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
authors.forename: Ning
authors.initials: N
authors.lastname: Liu
authors.affiliation: Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
authors.forename: Huirong
authors.initials: H
authors.lastname: Shi
authors.affiliation: Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China. Email: kongxd@263.net.
authors.forename: Xiangdong
authors.initials: X
authors.lastname: Kong
authors.affiliation: Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
authors.forename: Qinghua
authors.initials: Q
authors.lastname: Wu
authors.affiliation: Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
authors.forename: Miao
authors.initials: M
authors.lastname: Jiang
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D015193:Chorionic Villi Sampling; D004252:DNA Mutational Analysis; D005260:Female; D005315:Fetal Diseases; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006023:Glycoproteins / Q000235:genetics* / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D008297:Male; D016532:Mucopolysaccharidosis II / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017422:Sequence Analysis, DNA
chemical_list: D006023:Glycoproteins; C018322:IDS protein, human