{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T11:47:04Z","timestamp":1784720824646,"version":"3.55.0"},"reference-count":30,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,2,9]],"date-time":"2016-02-09T00:00:00Z","timestamp":1454976000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"National Institute of Pediatrics"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,5]]},"abstract":"Hunter syndrome or mucopolysaccharidosis type II<\/jats:styled-content> (MPSII<\/jats:styled-content>) is caused by pathogenic variants in the IDS<\/jats:styled-content><\/jats:italic> gene. This is the first study that examines the mutational spectrum in 25 unrelated Mexican MPSII<\/jats:styled-content> families. The responsible genotype was identified in 96% of the families (24\/25) with 10 novel pathogenic variants: c.133G<\/jats:styled-content>>C, c.1003C<\/jats:styled-content>>T, c.1025A<\/jats:styled-content>>C, c.463_464delinsCCGTATAGCTGG, c.754_767del, c.1132_1133del, c.1463del, c.508\u20101G<\/jats:styled-content>>C, c.1006+1G<\/jats:styled-content>>T and c.(\u2010217_103del). Extensive IDS<\/jats:styled-content><\/jats:italic> gene deletions were identified in four patients; using DNA<\/jats:styled-content> microarray analysis two patients showed the loss of the entire AFF2<\/jats:styled-content><\/jats:italic> gene, and epilepsy developed in only one of them. Wide allelic heterogeneity was noted, with large gene alterations (e.g. IDS<\/jats:styled-content>\/IDSP1<\/jats:styled-content><\/jats:italic> gene inversions, partial to extensive IDS<\/jats:styled-content><\/jats:italic> deletions, and one chimeric IDS\u2010IDSP1<\/jats:styled-content><\/jats:italic> allele) that occurred at higher frequencies than previously reported (36% vs<\/jats:italic> 18.9\u201329%). The frequency of carrier mothers (80%) is consistent with previous descriptions (>70%). Carrier assignment allowed molecular prenatal diagnoses. Notably, somatic and germline mosaicism was identified in one family, and two patients presented thrombocytopenic purpura and pancytopenia after idursulfase enzyme replacement treatment. Our findings suggest a wide allelic heterogeneity in Mexican MPSII<\/jats:styled-content> patients; DNA<\/jats:styled-content> microarray analysis contributes to further delineation of the resulting phenotype for IDS<\/jats:styled-content><\/jats:italic> and neighboring loci deletions.<\/jats:p>","DOI":"10.1111\/cge.12738","type":"journal-article","created":{"date-parts":[[2016,1,14]],"date-time":"2016-01-14T13:53:09Z","timestamp":1452779589000},"page":"574-583","source":"Crossref","is-referenced-by-count":17,"title":["Wide allelic heterogeneity with predominance of large IDS<\/scp><\/i> gene complex rearrangements in a sample of Mexican patients with Hunter syndrome"],"prefix":"10.1111","volume":"89","author":[{"given":"M.A.","family":"Alc\u00e1ntara\u2010Ortigoza","sequence":"first","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Departamento de Gen\u00e9tica Humana Instituto Nacional de Pediatr\u00eda Distrito Federal M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Garc\u00eda\u2010de Teresa","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Departamento de Gen\u00e9tica Humana Instituto Nacional de Pediatr\u00eda Distrito Federal M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Gonz\u00e1lez\u2010del Angel","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Departamento de Gen\u00e9tica Humana Instituto Nacional de Pediatr\u00eda Distrito Federal M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Berumen","sequence":"additional","affiliation":[{"name":"Departamento de Medicina Experimental, Facultad de Medicina Universidad Nacional Aut\u00f3noma de M\u00e9xico Distrito Federal M\u00e9xico"},{"name":"Unidad de Medicina Gen\u00f3mica Hospital General de M\u00e9xico Distrito Federal M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Guardado\u2010Estrada","sequence":"additional","affiliation":[{"name":"Unidad de Medicina Gen\u00f3mica Hospital General de M\u00e9xico Distrito Federal M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Fern\u00e1ndez\u2010Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Departamento de Gen\u00e9tica Humana Instituto Nacional de Pediatr\u00eda Distrito Federal M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.I.","family":"Navarrete\u2010Mart\u00ednez","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica. Hospital de Alta Especialidad PEMEX Picacho Sur Distrito Federal M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Maza\u2010Morales","sequence":"additional","affiliation":[{"name":"M\u00e9dico Residente de Pediatr\u00eda, Instituto Nacional de Pediatr\u00eda Distrito Federal M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Rius\u2010Dom\u00ednguez","sequence":"additional","affiliation":[{"name":"M\u00e9dico Residente de Gen\u00e9tica M\u00e9dica, Departamento de Gen\u00e9tica Humana Instituto Nacional de Pediatr\u00eda Distrito Federal M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,2,9]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.4.615"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1996)8:1<44::AID-HUMU6>3.0.CO;2-P"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200213"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20165"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2007.00213.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.08.011"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35271"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.3.479"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2786"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9533-7"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-007-0635-4"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2013.0384"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410127"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1234-3"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0097842"},{"issue":"1","key":"e_1_2_6_17_1","first-page":"21","article-title":"Molecular basis of iduronate\u20102\u2010sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome)","volume":"36","author":"Li P","year":"1999","journal-title":"J Med Genet"},{"issue":"6","key":"e_1_2_6_18_1","first-page":"1202","article-title":"Mucopolysaccharidosis type II (Hunter syndrome): mutation \"hot spots\" in the iduronate\u20102\u2010sulfatase gene","volume":"59","author":"Rathmann M","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0022951"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01641.x"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9128"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380020603"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073811425860"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31638"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32261"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-1275-9"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.11.006"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.03.002"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-011-1248-6"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.162"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1177\/0960327110379023"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12738","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12738","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T21:45:19Z","timestamp":1696369519000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12738"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,2,9]]},"references-count":30,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2016,5]]}},"alternative-id":["10.1111\/cge.12738"],"URL":"https:\/\/doi.org\/10.1111\/cge.12738","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,2,9]]}}}