Birth of a healthy baby after preimplantation genetic diagnosis in a carrier of mucopolysaccharidosis type II: The first case in Korea

• Published in: Clinical and experimental reproductive medicine Vol. 46; no. 4; pp. 206 - 210
• Main Authors: Ko, Duck Sung, Lee, Sun-Hee, Park, Chan Woo, Lim, Chun Kyu
• Format: Journal Article
• Language: English
• Published: Korea (South) Korean Society for Reproductive Medicine 01.12.2019
• Subjects: Case Report; Multiplex polymerase chain reaction; Mucopolysaccharidosis II; Preimplantation genetic diagnosis

Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive lysosomal storage disease caused by mutation of the iduronate-2-sulfatase gene. The mutation results in iduronate-2-sulfatase deficiency, which causes the progressive accumulation of heparan sulfate and dermatan sulfate in cellular...