{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T10:14:48Z","timestamp":1756462488343},"reference-count":12,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,8,20]],"date-time":"2012-08-20T00:00:00Z","timestamp":1345420800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2013,6]]},"abstract":"Fabry disease (FD<\/jats:styled-content>) is an underdiagnosed pathology due to its symptomatology that overlaps with various systemic and rheumatic disorders, including familial Mediterranean fever (FMF<\/jats:styled-content>). We examined the Mediterranean fever (MEFV<\/jats:styled-content>) and \u03b1\u2010galactosidase A (GLA<\/jats:styled-content><\/jats:italic>) genes, whose mutations are responsible for FMF<\/jats:styled-content> and FD<\/jats:styled-content>, respectively, in 42 unrelated patients diagnosed with FMF<\/jats:styled-content>, which revealed significant ambiguity regarding some of the symptoms which are also present in FD<\/jats:styled-content>. The objective of this study was to determine the spectrum of mutations present in these genes, in order to identify cases of mistaken diagnosis of FMF<\/jats:styled-content> and\/or missed diagnosis of FD<\/jats:styled-content>. Ten out of 42 patients had one mutation in homozygosis or two different mutations in heterozygosis in the\nMEFV<\/jats:styled-content><\/jats:italic> gene; 20\/42 had a single heterozygous mutation, and 12\/42 did not have genetic alterations in MEFV<\/jats:styled-content>. The analysis of the GLA<\/jats:styled-content><\/jats:italic> gene conducted on all the samples revealed that three subjects, and some members of their families, had two different exonic mutations associated with FD<\/jats:styled-content>. Family studies allowed us to identify eight other cases of FD<\/jats:styled-content>, bringing the total undiagnosed subjects to 11\/53. Analyzing the MEFV<\/jats:italic><\/jats:styled-content> and GLA<\/jats:italic><\/jats:styled-content> genes in patients with clinical diagnoses of FMF<\/jats:styled-content> proved to be fundamentally important for the reduction of diagnostic errors.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2012.01940.x","type":"journal-article","created":{"date-parts":[[2012,8,21]],"date-time":"2012-08-21T03:27:33Z","timestamp":1345519653000},"page":"576-581","source":"Crossref","is-referenced-by-count":18,"title":["Misdiagnosis of familial Mediterranean fever in patients with Anderson\u2013Fabry disease"],"prefix":"10.1111","volume":"83","author":[{"given":"C","family":"Zizzo","sequence":"first","affiliation":[{"name":"National Research Council, Institute of Biomedicine and Molecular Immunology \u201cA. Monroy\u201d IBIM\u2010CNR Palermo Sicily Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Colomba","sequence":"additional","affiliation":[{"name":"National Research Council, Institute of Biomedicine and Molecular Immunology \u201cA. Monroy\u201d IBIM\u2010CNR Palermo Sicily Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Albeggiani","sequence":"additional","affiliation":[{"name":"National Research Council, Institute of Biomedicine and Molecular Immunology \u201cA. Monroy\u201d IBIM\u2010CNR Palermo Sicily Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Gallizzi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Sciences University of Messina Messina Sicily Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Iemolo","sequence":"additional","affiliation":[{"name":"National Research Council, Institute of Biomedicine and Molecular Immunology \u201cA. Monroy\u201d IBIM\u2010CNR Palermo Sicily Italy"},{"name":"Department of Neurology Guzzardi Hospital Vittoria Sicily Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Nuzzo","sequence":"additional","affiliation":[{"name":"National Research Council, Institute of Biomedicine and Molecular Immunology \u201cA. Monroy\u201d IBIM\u2010CNR Palermo Sicily Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Vasto","sequence":"additional","affiliation":[{"name":"Dipartimento di Biopatologia e Biotecnologie Mediche e Forensi University of Palermo Palermo Sicily Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Caruso","sequence":"additional","affiliation":[{"name":"Dipartimento di Biopatologia e Biotecnologie Mediche e Forensi University of Palermo Palermo Sicily Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Duro","sequence":"additional","affiliation":[{"name":"National Research Council, Institute of Biomedicine and Molecular Immunology \u201cA. Monroy\u201d IBIM\u2010CNR Palermo Sicily Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,8,20]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1006\/rwgn.2001.0443"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-005-0656-2"},{"issue":"26","key":"e_1_2_7_4_1","first-page":"440","article-title":"Fabry disease\u2010often seen, rarely diagnosed","volume":"106","author":"Hoffmann B","year":"2009","journal-title":"Dtsch Arztebl Int"},{"issue":"6","key":"e_1_2_7_5_1","first-page":"787","article-title":"Fabry's disease mimicking familial Mediterranean fever","volume":"18","author":"Dinc A","year":"2000","journal-title":"Clin Exp Rheumatol"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01718.x"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.24458"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.12.010"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/93.4.217"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1756-0500-4-323"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-8981(01)00478-8"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.600107.x"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/504601"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2012.01940.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2012.01940.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T10:58:37Z","timestamp":1700650717000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2012.01940.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,8,20]]},"references-count":12,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013,6]]}},"alternative-id":["10.1111\/j.1399-0004.2012.01940.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2012.01940.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,8,20]]}}}