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Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II

Title
Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II
Authors
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
여성희
SCOPUS Author ID
여성희scopus
Issue Date
2012
Journal Title
Clinical Genetics
ISSN
0009-9163JCR Link
Citation
vol. 81, no. 2, pp. 185 - 190
Indexed
SCI; SCIE; SCOPUS WOS scopus
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. © 2011 John Wiley & Sons A/S.
DOI
10.1111/j.1399-0004.2011.01641.x
Appears in Collections:
사범대학 > 과학교육과 > Journal papers
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