Birth of a healthy baby after preimplantation genetic diagnosis in a carrier of mucopolysaccharidosis type II: The first case in Korea
- Author:
Duck Sung KO
1
;
Sun Hee LEE
;
Chan Woo PARK
;
Chun Kyu LIM
Author Information
- Publication Type:Case Report
- Keywords: Mucopolysaccharidosis II; Multiplex polymerase chain reaction; Preimplantation genetic diagnosis
- MeSH: Age of Onset; Blastomeres; Dermatan Sulfate; Diagnosis; Embryonic Structures; Female; Heparitin Sulfate; Humans; Korea; Lysosomal Storage Diseases; Lysosomes; Male; Mucopolysaccharidoses; Mucopolysaccharidosis II; Multiplex Polymerase Chain Reaction; Parturition; Phenotype; Polymerase Chain Reaction; Preimplantation Diagnosis; Prostaglandins D
- From:Clinical and Experimental Reproductive Medicine 2019;46(4):206-210
- CountryRepublic of Korea
- Language:English
- Abstract: 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
