{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,18]],"date-time":"2024-07-18T02:16:18Z","timestamp":1721268978837},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2011,5,16]],"date-time":"2011-05-16T00:00:00Z","timestamp":1305504000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2012,5]]},"abstract":"<jats:p>Wang X, Zhang W, Shi H, Qiu Z, Meng Y, Yao F, Wei M. Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis.<\/jats:p><jats:p>Mucopolysaccharidosis I (MPS I) is a lysosomal storage disease that results from the deficiency of <jats:italic>\u03b1<\/jats:italic>\u2010<jats:sc>l<\/jats:sc>\u2010iduronidase and is transmitted in an autosomally recessive manner. This report describes the first systematic screening for mutations in Chinese MPS I patients from mainland China, wherein we have summarized the phenotype\/genotype correlation of the individuals in Chinese MPS I patients. Mutational analyses were performed in 57 unrelated Chinese MPS I patients. Overall, 105 mutant alleles were identified from a set of 41 different mutations. Notably, of these 41 mutations, 27 were novel mutations that consisted of 8 splicing mutations (c.1\u20102C&gt;G, c.296+4G&gt;A, c.300\u20101G&gt;C, c.792+1G&gt;C, c.973\u20104G&gt;A, c.1189+5G&gt;T, c.1402+1G&gt;T and c.1402+2T&gt;G), 1 nonsense mutation (p.W41X), 1 insertion (c.668\u2010670ins GCG), 5 duplications (c.531dupT, c.657dupG, c.883dupC, c.1147dupG and c.1225dupG), 3 deletions (c.349delT, c.1593delG and c.1244\u20101271del27),1 nucleotide substitution c.2T&gt;C and 8 missense mutations (p.H33P,p.F52L, p.G168V,p.T179R,p. E182D, p.L237R, p.L238R and p.L421P). The missense mutations p.A79V and p.L346R, which accounted for 16.7% (19\/114) and 12.3% (14\/114) respectively, were the common mutations in Chinese patients but were rare in the mutational profiles reported for other populations. These results indicate that Chinese MPS I patients may have a different mutational spectrum compared to those of other populations. Moreover, for the first time in China, molecular genetic methods were used for prenatal diagnosis of six cases in five families.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2011.01680.x","type":"journal-article","created":{"date-parts":[[2011,4,11]],"date-time":"2011-04-11T12:43:19Z","timestamp":1302525799000},"page":"443-452","source":"Crossref","is-referenced-by-count":28,"title":["Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis"],"prefix":"10.1111","volume":"81","author":[{"given":"X","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z","family":"Qiu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Meng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Yao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Wei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,5,16]]},"reference":[{"issue":"5","key":"e_1_2_7_2_2","first-page":"381","article-title":"The mucopolysaccharidoses: diagnosis, molecular genetics and treatment.","volume":"7","author":"Hopwood JJ","year":"1990","journal-title":"Mol Biol Med"},{"key":"e_1_2_7_3_2","first-page":"3421","volume-title":"The metabolic and molecular basis of inherited disease","author":"Neufeld EF","year":"2001"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100606"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.21.9695"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90053-U"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32812"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(02)00200-7"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1985.tb09159.x"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(79)90121-9"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.21.9695"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.65"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.11.939"},{"key":"e_1_2_7_14_2","first-page":"425","article-title":"Mucopolysaccharidosis type I: identification and characterization of mutations affecting alpha\u2010l\u2010iduronidase activity.","volume":"101","author":"Lee\u2010Chen GJ","year":"2002","journal-title":"J Formos Med Assoc"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2000.570207.x"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380010204"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380010412"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.6.861"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380060403"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.9.1471"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2011.01680.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2011.01680.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T18:31:55Z","timestamp":1698777115000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2011.01680.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,5,16]]},"references-count":19,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2012,5]]}},"alternative-id":["10.1111\/j.1399-0004.2011.01680.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2011.01680.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,5,16]]}}}