{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T13:10:01Z","timestamp":1789132201547,"version":"build-2803163510"},"reference-count":25,"publisher":"MDPI AG","issue":"20","license":[{"start":{"date-parts":[[2022,10,11]],"date-time":"2022-10-11T00:00:00Z","timestamp":1665446400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"SANOFI","award":["SGZ-2018-12269"],"award-info":[{"award-number":["SGZ-2018-12269"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Anderson\u2013Fabry disease (FD) is an X-linked disease caused by a functional deficit of the \u03b1-galactosidase A enzyme. FD diagnosis relies on the clinical manifestations and research of GLA gene mutations. However, because of the lack of a clear genotype\/phenotype correlation, FD diagnosis can be challenging. Recently, several studies have highlighted the importance of investigating DNA methylation patterns for confirming the correct diagnosis of different rare Mendelian diseases, but to date, no such studies have been reported for FD. Thus, in the present investigation, we analyzed for the first time the genome-wide methylation profile of a well-characterized cohort of patients with Fabry disease. We profiled the methylation status of about 850,000 CpG sites in 5 FD patients, all carrying the same mutation in the GLA gene (exon 6 c.901C&gt;G) and presenting comparable low levels of \u03b1-Gal A activity. We found that, although the whole methylome profile did not discriminate the FD group from the unaffected one, several genes were significantly differentially methylated in Fabry patients. Thus, we provide here a proof of concept, to be tested in patients with different mutations and in a larger cohort, that the methylation state of specific genes can potentially identify Fabry patients and possibly predict organ involvement and disease evolution.<\/jats:p>","DOI":"10.3390\/ijms232012110","type":"journal-article","created":{"date-parts":[[2022,10,11]],"date-time":"2022-10-11T22:18:13Z","timestamp":1665526693000},"page":"12110","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Methylome Profiling in Fabry Disease in Clinical Practice: A Proof of Concept"],"prefix":"10.3390","volume":"23","author":[{"given":"Teodolinda","family":"Di Risi","sequence":"first","affiliation":[{"name":"CEINGE, Biotecnologie Avanzate, Via Gaetano Salvatore, 80145 Naples, Italy"},{"name":"Department of Public Health, University Federico II, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariella","family":"Cuomo","sequence":"additional","affiliation":[{"name":"CEINGE, Biotecnologie Avanzate, Via Gaetano Salvatore, 80145 Naples, Italy"},{"name":"Department of Molecular Medicine and Medical Biotechnologies, University Federico II, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Vinciguerra","sequence":"additional","affiliation":[{"name":"CEINGE, Biotecnologie Avanzate, Via Gaetano Salvatore, 80145 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Ferraro","sequence":"additional","affiliation":[{"name":"CEINGE, Biotecnologie Avanzate, Via Gaetano Salvatore, 80145 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"Della Monica","sequence":"additional","affiliation":[{"name":"CEINGE, Biotecnologie Avanzate, Via Gaetano Salvatore, 80145 Naples, Italy"},{"name":"Department of Molecular Medicine and Medical Biotechnologies, University Federico II, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8987-1325","authenticated-orcid":false,"given":"Davide","family":"Costabile","sequence":"additional","affiliation":[{"name":"CEINGE, Biotecnologie Avanzate, Via Gaetano Salvatore, 80145 Naples, Italy"},{"name":"SEMM-European School of Molecular Medicine, University Federico II, 80145 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Buonaiuto","sequence":"additional","affiliation":[{"name":"CEINGE, Biotecnologie Avanzate, Via Gaetano Salvatore, 80145 Naples, Italy"},{"name":"Department of Molecular Medicine and Medical Biotechnologies, University Federico II, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Trio","sequence":"additional","affiliation":[{"name":"CEINGE, Biotecnologie Avanzate, Via Gaetano Salvatore, 80145 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ettore","family":"Capoluongo","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnologies, University Federico II, 80131 Naples, Italy"},{"name":"Department of Clinical Pathology and Genomics, Azienda Ospedaliera per L\u2019Emergenza Cannizzaro, 95126 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7613-3801","authenticated-orcid":false,"given":"Roberta","family":"Visconti","sequence":"additional","affiliation":[{"name":"CEINGE, Biotecnologie Avanzate, Via Gaetano Salvatore, 80145 Naples, Italy"},{"name":"Institute for the Experimental Endocrinology and Oncology, Italian National Council of Research, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Riccio","sequence":"additional","affiliation":[{"name":"Institute for Biomedical Research and Innovation, Italian National Research Council, 90146 Palermo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Pisani","sequence":"additional","affiliation":[{"name":"Department of Public Health, University Federico II, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Chiariotti","sequence":"additional","affiliation":[{"name":"CEINGE, Biotecnologie Avanzate, Via Gaetano Salvatore, 80145 Naples, Italy"},{"name":"Department of Molecular Medicine and Medical Biotechnologies, University Federico II, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,10,11]]},"reference":[{"key":"ref_1","unstructured":"Scriver, C.R.B.A., Sly, W.S., and Valle, D. 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