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
• ISSN: 2233-8233; 2233-8241
• DOI: 10.5653/cerm.2019.00094

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 lysosomes. The phenotype, age of onset, and symptoms of MPS II vary; accordingly, the disease can be classified into either the early-onset type or the late-onset type, depending on the age of onset and the severity of the symptoms. In patients with severe MPS II, symptoms typically first appear between 2 and 5 years of age. Patients with severe MPS II usually die in the second decade of life although some patients with less severe disease have survived into their fifth or sixth decade. Here, we report the establishment of a preimplantation genetic diagnosis (PGD) strategy using multiplex nested polymerase chain reaction, direct sequencing, and linkage analysis. Unaffected embryos were selected via the diagnosis of a single blastomere, and a healthy boy was delivered by a female carrier of MPS II. This is the first successful application of PGD in a patient with MPS II in Korea.