title: Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II.
abstract: Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is a rare lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS). As MPS II is X-linked, patients are usually males with heterogeneous mutations ranging from point mutations to gross deletions and recombination. In 2003, we reported a mutation analysis of 25 patients with MPS II. In this study, 31 mutations in another 49 Korean patients (45 families) with MPS II are reported: 12 missense, nine deletions, four splicing, two nonsense, two insertions, one deletion/insertion, and IDS-IDS2 recombination mutations. Among these mutations, 11 were novel ones (4 missense mutations: Ser61Pro, Pro97Arg, Pro228Ala, and Pro261Ala; 5 deletions: c.344delA, c.420delG, c.768delT, c.1112delC and c.1402delC; 1 deletion/insertion: c.1222delinsTA; and 1 insertion mutation: c.359_360insATCC). The IDS-IDS2 recombination mutations were most frequently observed; all patients with this mutation had the severe MPS II phenotype. However, most of the patients (5/7) with the G374G splicing mutation had an attenuated phenotype, except for two sibling cases with the severe phenotype. Except for a few recurrent mutations such as the G374G, R443X, L522P, and recombination mutations, each patient had a unique individual mutation. Therefore, careful interpretation of genotype-phenotype correlations is warranted.
authors.affiliation: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
authors.forename: Y B
authors.initials: YB
authors.lastname: Sohn
authors.forename: C-S
authors.initials: CS
authors.lastname: Ki
authors.forename: C-H
authors.initials: CH
authors.lastname: Kim
authors.forename: A-R
authors.initials: AR
authors.lastname: Ko
authors.forename: Y-J
authors.initials: YJ
authors.lastname: Yook
authors.forename: S-J
authors.initials: SJ
authors.lastname: Lee
authors.forename: S J
authors.initials: SJ
authors.lastname: Kim
authors.forename: S W
authors.initials: SW
authors.lastname: Park
authors.forename: S
authors.initials: S
authors.lastname: Yeau
authors.forename: E-K
authors.initials: EK
authors.lastname: Kwon
authors.forename: S J
authors.initials: SJ
authors.lastname: Han
authors.forename: E W
authors.initials: EW
authors.lastname: Choi
authors.forename: S-Y
authors.initials: SY
authors.lastname: Lee
authors.forename: J-W
authors.initials: JW
authors.lastname: Kim
authors.forename: D-K
authors.initials: DK
authors.lastname: Jin
mesh_terms: D044466:Asian People / Q000235:genetics; D006801:Humans; D007066:Iduronate Sulfatase / Q000235:genetics*; D016532:Mucopolysaccharidosis II / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D059645:Mutation Rate; D010641:Phenotype; D056910:Republic of Korea
chemical_list: D007066:Iduronate Sulfatase