{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:04:31Z","timestamp":1792166671999,"version":"4.4.0"},"reference-count":21,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2014,7,8]],"date-time":"2014-07-08T00:00:00Z","timestamp":1404777600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Cinque per mille e Finanziamento Ricerca Corrente, Ministero della Salute"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare X\u2010linked disorder caused by deficient activity of the lysosomal enzyme, iduronate\u20102\u2010sulfatase (IDS). Phenotypic expression of MPS II in female patients rarely occurs and may be the result of (i) structural abnormalities of the X chromosome, (ii) homozygosity for disease\u2010causing mutations, or (iii) skewed X\u2010chromosome inactivation, in which the normal <jats:italic>IDS<\/jats:italic> allele is preferentially inactivated and the abnormal <jats:italic>IDS<\/jats:italic> allele is active. We report here on a female patient with clinical MPS II manifestations, deficiency of IDS enzyme activity and a de novo balanced reciprocal X;9 translocation. As our patient has a skewed XCI pattern, but neither genomic <jats:italic>IDS<\/jats:italic> mutations nor abnormal <jats:italic>IDS<\/jats:italic> transcripts were detected, we speculate about the possible role of the chromosomal rearrangement in reducing the <jats:italic>IDS<\/jats:italic> translation efficiency. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36667","type":"journal-article","created":{"date-parts":[[2014,7,8]],"date-time":"2014-07-08T21:30:20Z","timestamp":1404855020000},"page":"2627-2632","source":"Crossref","is-referenced-by-count":19,"title":["Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation"],"prefix":"10.1002","volume":"164","author":[{"given":"Fortunato","family":"Lonardo","sequence":"first","affiliation":[{"name":"U.O.C. di Genetica Medica A.O.R.N. \u201cG. Rummo\u201d Benevento Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Di Natale","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnology University of Naples Federico II Napoli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanna","family":"Lualdi","sequence":"additional","affiliation":[{"name":"Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche Istituto Giannina Gaslini Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Acquaviva","sequence":"additional","affiliation":[{"name":"U.O.C. di Genetica Medica A.O.R.N. \u201cG. Rummo\u201d Benevento Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Cuoco","sequence":"additional","affiliation":[{"name":"Laboratorio di Citogenetica Istituto G. Gaslini Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Scarano","sequence":"additional","affiliation":[{"name":"U.O.C. di Genetica Medica A.O.R.N. \u201cG. Rummo\u201d Benevento Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianna","family":"Maioli","sequence":"additional","affiliation":[{"name":"U.O.C. di Genetica Medica A.O.R.N. \u201cG. Rummo\u201d Benevento Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi Michele","family":"Pavone","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnology University of Naples Federico II Napoli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grazia","family":"Di Gregorio","sequence":"additional","affiliation":[{"name":"U.O.C. di Genetica Medica A.O.R.N. \u201cG. Rummo\u201d Benevento Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirella","family":"Filocamo","sequence":"additional","affiliation":[{"name":"Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche Istituto Giannina Gaslini Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gioacchino","family":"Scarano","sequence":"additional","affiliation":[{"name":"U.O.C. di Genetica Medica A.O.R.N. \u201cG. 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