{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,24]],"date-time":"2025-05-24T20:22:34Z","timestamp":1748118154793},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,4,10]],"date-time":"2012-04-10T00:00:00Z","timestamp":1334016000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hunter disease or mucopolysaccharidosis type II (MPS II) is an X\u2010linked recessive lysosomal disorder caused by the deficiency of iduronate\u20102\u2010sulfatase, which is involved in the catabolism of the glycosaminoglycans (GAGs) heparan and dermatan sulphate. Our aim was to analyze three patients with severe Hunter syndrome that showed a total deletion of the iduronate\u20102\u2010sulphatase (IDS) gene, after exon by exon PCR. DNA was used as a template for PCR synthesis of <jats:italic>IDS<\/jats:italic>, <jats:italic>FRAXA<\/jats:italic>, <jats:italic>FRAXE<\/jats:italic>, and <jats:italic>DXS1113<\/jats:italic> specific amplicons. The DNA analysis for all three patients demonstrated a complete deletion of IDS, <jats:italic>FRAXA<\/jats:italic>, and <jats:italic>FRAXE<\/jats:italic> contiguous genes. We further performed SNP\u2010array to delineate the deletion breakpoints and to characterize the deletion extension in the different patients. The results indicated a \u223c9.4\u2009Mb deletion in Patient 1, a \u223c3.9\u2009Mb deletion of the Xq27.3\u2013Xq28 and a \u223c3.1\u2009Mb duplication of the X q28 region in Patient 2 and a \u223c41.8\u2009Kb deletion in Patient 3. SNP\u2010array was shown to be important to map for deletion breakpoints. A comprehensive molecular analysis in patients with Hunter syndrome, especially in the ones presenting the severe form, is important to the understanding of the genetic determinants of the phenotype and for the genetic counseling to be provided to the families. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35271","type":"journal-article","created":{"date-parts":[[2012,4,10]],"date-time":"2012-04-10T19:48:27Z","timestamp":1334087307000},"page":"1055-1059","source":"Crossref","is-referenced-by-count":15,"title":["Severe phenotype in MPS II patients associated with a large deletion including contiguous genes"],"prefix":"10.1002","volume":"158A","author":[{"given":"Ana Carolina","family":"Brusius\u2010Facchin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolina Fischinger Moura","family":"De Souza","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ida Vanessa D.","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariluce","family":"Riegel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Isabel","family":"Melaragno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patr\u00edcia","family":"Correia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L\u00facia Marques","family":"Moraes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr.","given":"Juan","family":"Llerena","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Giugliani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Leistner\u2010Segal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,4,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.03.005"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0893-335"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2002.tb03116.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1996)7:1<76::AID-HUMU14>3.0.CO;2-P"},{"key":"e_1_2_6_6_1","first-page":"923","article-title":"Segregation of FRAXE in a large family: Clinical, psychometric, cytogenetic, and molecular data","volume":"55","author":"Hamel BC","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380020603"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050901"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200005)15:5<393::AID-HUMU1>3.0.CO;2-R"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.3.162"},{"key":"e_1_2_6_11_1","first-page":"2465","volume-title":"The metabolic and molecular basis of inherited disease","author":"Neufeld EF","year":"2001"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2007.00212.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/1.2.111"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.3.479"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.3.170"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.5.612-a"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35271","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35271","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T00:25:11Z","timestamp":1698711911000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35271"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4,10]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2012,5]]}},"alternative-id":["10.1002\/ajmg.a.35271"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35271","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,4,10]]}}}