{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T10:02:07Z","timestamp":1779789727237,"version":"3.53.1"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T00:00:00Z","timestamp":1751414400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T00:00:00Z","timestamp":1751414400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Jones syndrome (JS) is an ultra\u2010rare autosomal dominant condition characterized by gingival fibromatosis and progressive sensorineural hearing loss. It has been recently demonstrated in members of a Finnish family to co\u2010segregate with heterozygosity for a frameshift variant in the fifth and last exon of the repressor element 1\u2010silencing transcription factor gene (\n                    <jats:italic>REST<\/jats:italic>\n                    ). Here, we report the first Italian family in which JS was diagnosed in the proband, a 38\u2010year\u2010old woman, and in her mother. Exome Sequencing identified in both, but not in clinically unaffected members of the family (i.e., a sister and the brother of the proband), the heterozygous pathogenic variant c.2645T&gt;G (p.Leu882*) in exon\u20105 of the\n                    <jats:italic>REST<\/jats:italic>\n                    gene. This study confirms that exon\u20105\n                    <jats:italic>REST<\/jats:italic>\n                    variants cause JS.\n                  <\/jats:p>","DOI":"10.1111\/cge.70017","type":"journal-article","created":{"date-parts":[[2025,7,3]],"date-time":"2025-07-03T02:24:32Z","timestamp":1751509472000},"page":"199-203","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel Pathogenic Variant Confirms the Association of\n                    <i>REST<\/i>\n                    and Jones Syndrome"],"prefix":"10.1111","volume":"109","author":[{"given":"Valentina","family":"Lodato","sequence":"first","affiliation":[{"name":"Department of Experimental Medicine, Division of Medical Genetics San Camillo\u2010Forlanini Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Galli","sequence":"additional","affiliation":[{"name":"Department of Odontostomatological Science 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