{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:38Z","timestamp":1753869698385,"version":"3.41.2"},"reference-count":11,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,6,19]],"date-time":"2024-06-19T00:00:00Z","timestamp":1718755200000},"content-version":"vor","delay-in-days":18,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Fabry disease (FD) is a rare X\u2010linked lysosomal storage disorder caused by variants in GLA gene leading to deficient \u03b1\u2010galactosidase A enzyme activity. This deficiency leads to the accumulation of glycosphingolipids, particularly globotriaosylceramide (Gb3), in various tissues and organs, which can result in life\u2010threatening complications. The clinical presentation of the disease can vary from the \u201cclassic\u201d phenotype with pediatric onset and multi\u2010organ involvement to the \u201clater\u2010onset\u201d phenotype, which presents with predominantly cardiac symptoms. In recent years, advances in screening studies have led to the identification of an increasing number of variants of unknown significance that have not yet been described, and whose pathogenic role remains undetermined.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this clinical report, we describe the case of an asymptomatic adult female who was found to have a new variant of unknown significance, p.Met70Val. Given the unknown pathogenic role of this variant, a thorough analysis of the potential organ involvement was conducted. The clinical data were analyzed retrospectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The analysis revealed that there were no signs of significant organ involvement, and the benignity of the variant was confirmed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This case underscores the importance of a comprehensive evaluation of new variants of unknown significance to establish their pathogenicity accurately.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2390","type":"journal-article","created":{"date-parts":[[2024,6,19]],"date-time":"2024-06-19T09:53:15Z","timestamp":1718790795000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["No evidence of Fabry disease in a patient with the new p.<scp>Met70Val GLA<\/scp> gene variant"],"prefix":"10.1002","volume":"12","author":[{"given":"Irene","family":"Capelli","sequence":"first","affiliation":[{"name":"Nephrology, Dialysis and Renal Transplant Unit IRCCS Azienda Ospedaliero\u2010Universitaria di Bologna  Bologna Italy"},{"name":"Department of Medical and Surgical Sciences (DIMEC) Alma Mater Studiorum University of Bologna  Bologna Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberta","family":"Di\u00a0Costanzo","sequence":"additional","affiliation":[{"name":"Nephrology, Dialysis and Renal Transplant Unit IRCCS Azienda Ospedaliero\u2010Universitaria di Bologna  Bologna Italy"},{"name":"Department of Medical and Surgical Sciences (DIMEC) Alma Mater Studiorum University of Bologna  Bologna Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valeria","family":"Aiello","sequence":"additional","affiliation":[{"name":"Nephrology, Dialysis and Renal Transplant Unit IRCCS Azienda Ospedaliero\u2010Universitaria di Bologna  Bologna Italy"},{"name":"Department of Medical and Surgical Sciences (DIMEC) Alma Mater Studiorum University of Bologna  Bologna Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Lerario","sequence":"additional","affiliation":[{"name":"Nephrology, Dialysis and Renal Transplant Unit IRCCS Azienda Ospedaliero\u2010Universitaria di Bologna  Bologna Italy"},{"name":"Department of Medical and Surgical Sciences (DIMEC) Alma Mater Studiorum University of Bologna  Bologna Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"De\u00a0Giovanni","sequence":"additional","affiliation":[{"name":"Department of Nephrology Infermi Hospital  Rimini Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcello","family":"Montevecchi","sequence":"additional","affiliation":[{"name":"Department of Nephrology Infermi Hospital  Rimini 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Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renzo","family":"Mignani","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences (DIMEC) Alma Mater Studiorum University of Bologna  Bologna Italy"},{"name":"Department of Nephrology Infermi Hospital  Rimini 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