OBJECTIVES: 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.
OBJECTIVES: 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: Maurizio Scarpa; Zsuzsanna Almássy; Michael Beck; Olaf Bodamer; Iain A Bruce; Linda De Meirleir; Nathalie Guffon; Encarna Guillén-Navarro; Pauline Hensman; Simon Jones; Wolfgang Kamin; Christoph Kampmann; Christina Lampe; Christine A Lavery; Elisa Leão Teles; Bianca Link; Allan M Lund; Gunilla Malm; Susanne Pitz; Michael Rothera; Catherine Stewart; Anna Tylki-Szymańska; Ans van der Ploeg; Robert Walker; Jiri Zeman; James E Wraith Journal: Orphanet J Rare Dis Date: 2011-11-07 Impact factor: 4.123
Authors: E S Philonenko; M V Shutova; E A Khomyakova; E M Vassina; O S Lebedeva; S L Kiselev; M A Lagarkova Journal: Acta Naturae Date: 2017 Jan-Mar Impact factor: 1.845