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Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II
- Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II
- Sohn Y.B.; Ki C.-S.; Kim C.-H.; Ko A.-R.; Yook Y.-J.; Lee S.-J.; Kim S.J.; Park S.W.; Yeau S.; Kwon E.-K.; Han S.J.; Choi E.W.; Lee S.-Y.; Kim J.-W.; Jin D.-K.
- Ewha Authors
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- Clinical Genetics
- vol. 81, no. 2, pp. 185 - 190
- SCI; SCIE; SCOPUS
- 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. © 2011 John Wiley & Sons A/S.
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