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Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line
Author(s) -
Altarescu Gheona,
Renbaum Paul,
EldarGeva Talia,
Brooks Baruch,
Varshaver Irit,
Avitzour Mical,
Margalioth Ehud J.,
LevyLahad Ephrat,
Elstein Deborah,
EpsztejnLitman Silvina,
Eiges Rachel
Publication year - 2011
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.2786
Subject(s) - hunter syndrome , mucopolysaccharidosis type ii , preimplantation genetic diagnosis , blastomere , embryo , biology , genetics , andrology , medicine , embryogenesis , disease , enzyme replacement therapy
Abstract 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. Copyright © 2011 John Wiley & Sons, Ltd.