{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T15:18:20Z","timestamp":1764688700851},"reference-count":19,"publisher":"Wiley","issue":"S2","license":[{"start":{"date-parts":[[2008,11,21]],"date-time":"2008-11-21T00:00:00Z","timestamp":1227225600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Hypoxanthine\u2010guanine phosphoribosyltransferase (HPRT; EC 2.4.2.8) deficiency (OMIM 308000) is an inborn error of purine metabolism. The defect causes three overlapping clinical syndromes: Lesch\u2013Nyhan disease (LND; OMIM 300322), HPRT\u2010related hyperuricaemia with neurologic dysfunction (HRND) and hyperuricaemia alone (HRH; OMIM 300322). During the period 1977\u20132007, 18 patients belonging to 12 Polish families and one Latvian family with HPRT deficiency have been identified. The majority of patients had a typical LND phenotype, three patients were classified as HRH and one patient as an intermediate phenotype (HRND). Genetic analysis revealed 12 different <jats:italic>HPRT1<\/jats:italic> mutations, five of them being unique. In two typical Lesch\u2013Nyhan families a novel single\u2010base substitution, c.220T&gt;G (p.Phe74Val), and a deletion of seven nucleotides, c.395_401del7 (p.Ile132LysfsX3), were found. Another novel single\u2010base substitution, c.295T&gt;G (p.Phe99Val), was identified in a patient with severe partial deficiency of HPRT with neurological dysfunction. In patients belonging to the HRH group, two transitions were detected: c.481G&gt;A (p.Ala161Thr) and c.526C&gt;T (p.Pro176Ser). Other mutations identified in Polish patients, c.131A&gt;G (p.Asp44Gly), c.222C&gt;A (p.Phe74Leu), c.385\u20131G&gt;A (p.Asn129_Glu134del), c.482C&gt;A (p.Ala161Glu), c.508C&gt;T (p.Arg170Ter) and c.569G&gt;A (p.Gly190Glu), have been reported previously in unrelated patients and are located within one of the clusters of hot spots of the <jats:italic>HPRT1<\/jats:italic> gene (exons 3, 7 and 8). Patients with partial phenotypes presented mutations predicted to permit some degree of residual enzyme function (single\u2010base substitutions). All mutations, except c.508C&gt;T (p.Arg170Ter), were found in single families only, indicating the lack of any common mutation causing HPRT deficiency in Poland.<\/jats:p>","DOI":"10.1007\/s10545-008-1013-8","type":"journal-article","created":{"date-parts":[[2008,11,18]],"date-time":"2008-11-18T16:13:00Z","timestamp":1227024780000},"page":"447-451","source":"Crossref","is-referenced-by-count":7,"title":["Hypoxanthine\u2010guanine phosphoribosylotransferase deficiency\u2014The spectrum of Polish mutations"],"prefix":"10.1002","volume":"31","author":[{"given":"A.","family":"Jurecka","sequence":"first","affiliation":[{"name":"Department of Metabolic Diseases, Endocrinology and Diabetology The Children's Memorial Health Institute Al. Dzieci Polskich 20 Warsaw 04\u2010730 Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Popowska","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics The Children's Memorial Health Institute Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Tylki\u2010Szymanska","sequence":"additional","affiliation":[{"name":"Department of Metabolic Diseases, Endocrinology and Diabetology The Children's Memorial Health Institute Al. Dzieci Polskich 20 Warsaw 04\u2010730 Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Kubalska","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute of Psychiatry and Neurology Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Ciara","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics The Children's Memorial Health Institute Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z.","family":"Krumina","sequence":"additional","affiliation":[{"name":"Medical Genetics Clinic Children's University Hospital Riga Latvia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Sykut\u2010Cegielska","sequence":"additional","affiliation":[{"name":"Department of Metabolic Diseases, Endocrinology and Diabetology The Children's Memorial Health Institute Al. Dzieci Polskich 20 Warsaw 04\u2010730 Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Pronicka","sequence":"additional","affiliation":[{"name":"Department of Metabolic Diseases, Endocrinology and Diabetology The Children's Memorial Health Institute Al. Dzieci Polskich 20 Warsaw 04\u2010730 Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,11,21]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00217770"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380020212"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI114160"},{"key":"e_1_2_5_5_1","first-page":"951","article-title":"Identification of 17 independent mutations responsible for human hypoxanthine\u2010guanine phosphoribosyltransferase (HPRT) deficiency","volume":"48","author":"Davidson BL","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.01.005"},{"key":"e_1_2_5_7_1","first-page":"423","article-title":"The spectrum of hypoxanthine\u2010guanine phosphoribosyltransferase deficiency","volume":"42","author":"Emmerson BT","year":"1973","journal-title":"Q J Med"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.01.006"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.6.1919"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(72)90286-2"},{"key":"e_1_2_5_11_1","first-page":"2537","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Jinnah HA","year":"2000"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1383-5742(00)00052-1"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1081\/NCN-200027400"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(00)00199-5"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02263652"},{"key":"e_1_2_5_16_1","first-page":"103","article-title":"Different mutations in Polish patients with HPRT deficiency\u2014the Lesch\u2013Nyhan and Kelley\u2013Seegmiller syndromes","volume":"39","author":"Popowska E","year":"1998","journal-title":"J Appl Genet"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-48"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI112275"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00220463"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1080\/15257770802135869"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-008-1013-8","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-008-1013-8","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-008-1013-8","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:23:08Z","timestamp":1694751788000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-008-1013-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,11,21]]},"references-count":19,"journal-issue":{"issue":"S2","published-print":{"date-parts":[[2008,12]]}},"alternative-id":["10.1007\/s10545-008-1013-8"],"URL":"https:\/\/doi.org\/10.1007\/s10545-008-1013-8","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,11,21]]}}}