{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,24]],"date-time":"2025-05-24T20:40:04Z","timestamp":1748119204339,"version":"3.41.0"},"reference-count":11,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","license":[{"start":{"date-parts":[[2020,12,7]],"date-time":"2020-12-07T00:00:00Z","timestamp":1607299200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:p>Our study aims to delineate the syndromology of Hunter syndrome (MPSII), by presenting three patients with different clinical courses, caused by different genetic mechanisms. Single-nucleotide variants (SNV) or small deletions encompassing the iduronate-2-sulfatase (<jats:italic toggle=\"yes\">IDS<\/jats:italic>) gene are identified in the majority of affected individuals, while deletion of contiguous genes or whole <jats:italic toggle=\"yes\">IDS<\/jats:italic> gene (described herein) has been reported rarely, mainly in patients with a severe Hunter syndrome presentation. There is; however, lack of reliable genotype\u2013phenotype correlation, especially regarding anthropometric parameters, and thus our understanding of MPSII pathophysiology is not complete. On the basis of our observations, we would like to draw attention to the fact that neurological manifestations observed in patients with contiguous gene deletions, encompassing the <jats:italic toggle=\"yes\">IDS<\/jats:italic> gene, may significantly differ from those observed in SNV. The phenotype is; however, difficult to predict and depends on the type (deletion\/duplication), size (small\/large) of aberration, and gene content. Moreover, it also has implications for genetic counseling, and recurrence risk in those families differs from the usual situation and must be clarified by parental chromosomal studies.<\/jats:p>","DOI":"10.1097\/mcd.0000000000000344","type":"journal-article","created":{"date-parts":[[2020,12,8]],"date-time":"2020-12-08T09:00:22Z","timestamp":1607418022000},"page":"76-82","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":2,"title":["Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?"],"prefix":"10.1097","volume":"30","author":[{"given":"Aleksandra","family":"Jezela-Stanek","sequence":"first","affiliation":[{"name":"Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Disease"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paulina","family":"Pokora","sequence":"additional","affiliation":[{"name":"Department of Paediatric, Nutrition and Metabolic Diseases, The Children\u2019s Memorial Health Institute"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marlena","family":"M\u0142ynek","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, The Children\u2019s Memorial Health Institute"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Smyk","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kamila","family":"Ziemkiewicz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Institute of Mother and Child"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnieszka","family":"R\u00f3\u017cd\u017cy\u0144ska-\u015awi\u0105tkowska","sequence":"additional","affiliation":[{"name":"Anthropology Laboratory, The Children\u2019s Memorial Health Institute, Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Tylki-Szyma\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Paediatric, Nutrition and Metabolic Diseases, The Children\u2019s Memorial Health Institute"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","published-online":{"date-parts":[[2020,12,7]]},"reference":[{"key":"R1-20250524","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1093\/hmg\/4.4.615","article-title":"Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome.","volume":"4","author":"Bondeson","year":"1995","journal-title":"Hum Mol 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characterization of cardiac involvement in Hunter syndrome.","volume":"159","author":"Kampmann","year":"2011","journal-title":"J Pediatr"},{"key":"R11-20250524","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1111\/dmcn.13467","article-title":"Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.","volume":"59","author":"Vollebregt","year":"2017","journal-title":"Dev Med Child Neurol"},{"key":"R12-20250524","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1007\/s00431-007-0635-4","article-title":"Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy.","volume":"167","author":"Wraith","year":"2008","journal-title":"Eur J Pediatr"},{"key":"R13-20250524","first-page":"13","article-title":"A hunter patient with a severe phenotype reveals two large deletions and two duplications extending 1.2\u2009Mb distally to IDS locus.","volume":"17","author":"Zanetti","year":"2014","journal-title":"JIMD Rep"}],"container-title":["Clinical Dysmorphology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/MCD.0000000000000344","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,24]],"date-time":"2025-05-24T20:02:24Z","timestamp":1748116944000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/10.1097\/MCD.0000000000000344"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12,7]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.1097\/mcd.0000000000000344","relation":{},"ISSN":["0962-8827"],"issn-type":[{"type":"print","value":"0962-8827"}],"subject":[],"published":{"date-parts":[[2020,12,7]]}}}