Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 여성희 | - |
dc.date.accessioned | 2016-08-28T12:08:49Z | - |
dc.date.available | 2016-08-28T12:08:49Z | - |
dc.date.issued | 2012 | - |
dc.identifier.issn | 0009-9163 | - |
dc.identifier.other | OAK-8373 | - |
dc.identifier.uri | https://dspace.ewha.ac.kr/handle/2015.oak/222284 | - |
dc.description.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. | - |
dc.language | English | - |
dc.title | Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II | - |
dc.type | Article | - |
dc.relation.issue | 2 | - |
dc.relation.volume | 81 | - |
dc.relation.index | SCIE | - |
dc.relation.index | SCOPUS | - |
dc.relation.startpage | 185 | - |
dc.relation.lastpage | 190 | - |
dc.relation.journaltitle | Clinical Genetics | - |
dc.identifier.doi | 10.1111/j.1399-0004.2011.01641.x | - |
dc.identifier.wosid | WOS:000299072900014 | - |
dc.identifier.scopusid | 2-s2.0-84855970343 | - |
dc.author.google | Sohn Y.B. | - |
dc.author.google | Ki C.-S. | - |
dc.author.google | Kim C.-H. | - |
dc.author.google | Ko A.-R. | - |
dc.author.google | Yook Y.-J. | - |
dc.author.google | Lee S.-J. | - |
dc.author.google | Kim S.J. | - |
dc.author.google | Park S.W. | - |
dc.author.google | Yeau S. | - |
dc.author.google | Kwon E.-K. | - |
dc.author.google | Han S.J. | - |
dc.author.google | Choi E.W. | - |
dc.author.google | Lee S.-Y. | - |
dc.author.google | Kim J.-W. | - |
dc.author.google | Jin D.-K. | - |
dc.contributor.scopusid | 여성희(6602666497) | - |
dc.date.modifydate | 20180301081000 | - |