title: Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line.
abstract: OBJECTIVE
  Preimplantation genetic diagnosis (PGD) enables the identification of affected embryos prior to implantation. We present for the first time three families in which either the oocytes or embryos obtained from female carriers of mutations in the iduronate-2-sulfatase (IDS) gene underwent PGD for mucopolysaccharidosis type II (Hunter syndrome). Furthermore, we report the first ever derivation of a Hunter's syndrome (46, XX) human stem cell line from embryos (HESC) carrying the IDS and oculocutaneus albinism type 2 mutations.
  
  
  METHODS
  Combined polar body (PB) 1 and 2 or a single cell of a six- to eight-cell embryo (blastomere) was used for genetic analysis by multiplex polymerase chain reaction assay using six microsatellite polymorphic markers flanking the gene and mutation.
  
  
  RESULTS
  One couple underwent four PB-PGD cycles, with birth of a healthy girl; the second couple with one PB-PGD cycle had healthy twins; the third couple underwent seven cycles of double PGD for Hunter and Albinism syndrome with birth of healthy twins. One novel Hunter 46, XX HESC line was established displaying typical characteristics of HESC cells.
  
  
  CONCLUSIONS
  PGD is a reliable method to prevent pregnancy of children affected with Hunter syndrome. In addition, derived HESC can be further utilized for drug testing and better understanding of the pathogenesis of this syndrome.
authors.affiliation: Medical Genetics Institute, ZOHAR PGD Lab, and IVF Unit, Shaare Zedek Medical Center, The Hebrew University, Jerusalem, Israel.
authors.forename: Gheona
authors.initials: G
authors.lastname: Altarescu
authors.forename: Paul
authors.initials: P
authors.lastname: Renbaum
authors.forename: Talia
authors.initials: T
authors.lastname: Eldar-Geva
authors.forename: Baruch
authors.initials: B
authors.lastname: Brooks
authors.forename: Irit
authors.initials: I
authors.lastname: Varshaver
authors.forename: Mical
authors.initials: M
authors.lastname: Avitzour
authors.forename: Ehud J
authors.initials: EJ
authors.lastname: Margalioth
authors.forename: Ephrat
authors.initials: E
authors.lastname: Levy-Lahad
authors.forename: Deborah
authors.initials: D
authors.lastname: Elstein
authors.forename: Silvina
authors.initials: S
authors.lastname: Epsztejn-Litman
authors.forename: Rachel
authors.initials: R
authors.lastname: Eiges
mesh_terms: D000328:Adult; D001757:Blastomeres; D002460:Cell Line; D004247:DNA / Q000032:analysis; D046149:Embryo Culture Techniques; D004624:Embryo Transfer; D005260:Female; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics; D008297:Male; D018895:Microsatellite Repeats; D016532:Mucopolysaccharidosis II / Q000517:prevention & control*; D009154:Mutation; D059705:Polar Bodies; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic / Q000235:genetics; D011247:Pregnancy; D011256:Pregnancy Outcome; D019836:Preimplantation Diagnosis / Q000379:methods*; D020554:Sperm Injections, Intracytoplasmic; D013234:Stem Cells; D016896:Treatment Outcome; D014427:Twins
chemical_list: D004247:DNA; D007066:Iduronate Sulfatase