These two authors contributed equally to this work.
Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II
Version of Record online: 24 FEB 2011
© 2011 John Wiley & Sons A/S
Volume 81, Issue 2, pages 185–190, February 2012
How to Cite
Sohn, Y., Ki, C.-S., Kim, C.-H., Ko, A.-R., Yook, Y.-J., Lee, S.-J., Kim, S., Park, S., Yeau, S., Kwon, E.-K., Han, S., Choi, E., Lee, S.-Y., Kim, J.-W. and Jin, D.-K. (2012), Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II. Clinical Genetics, 81: 185–190. doi: 10.1111/j.1399-0004.2011.01641.x
- Issue online: 12 JAN 2012
- Version of Record online: 24 FEB 2011
- Accepted manuscript online: 3 FEB 2011 11:40AM EST
- Received 4 October 2010, revised and accepted for publication 31 January 2011
Vol. 82, Issue 3, 300, Version of Record online: 12 AUG 2012
- Hunter syndrome;
- mucopolysaccharidosis type II;
Sohn YB, Ki C-S, Kim C-H, Ko A-R, Yook Y-J, Lee S-J, Kim SJ, Park SW, Yeau S, Kwon E-K, Han SJ, Choi EW, Lee S-Y, Kim J-W, Jin D-K. Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II.
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.