{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["109(1)"],"submitter":["Lodato V"],"funding":["EU-NextGeneration"],"pubmed_abstract":["Jones syndrome (JS) is an ultra-rare 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-segregate with heterozygosity for a frameshift variant in the fifth and last exon of the repressor element 1-silencing transcription factor gene (REST). Here, we report the first Italian family in which JS was diagnosed in the proband, a 38-year-old 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>G (p.Leu882*) in exon-5 of the REST gene. This study confirms that exon-5 REST variants cause JS."],"journal":["Clinical genetics"],"pagination":["199-203"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12674978"],"repository":["biostudies-literature"],"pubmed_title":["Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome."],"pmcid":["PMC12674978"],"pubmed_authors":["Grammatico P","Turchetta R","Palmisano B","Riminucci M","Celli L","Allegra E","Lodato V","Colizza A","Bianco MR","Stanganelli FRF","Galli M","Corsi A","Bottillo I","Messineo D","D'Angeli G","Gianno F"],"additional_accession":[]},"is_claimable":false,"name":"Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome.","description":"Jones syndrome (JS) is an ultra-rare 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-segregate with heterozygosity for a frameshift variant in the fifth and last exon of the repressor element 1-silencing transcription factor gene (REST). Here, we report the first Italian family in which JS was diagnosed in the proband, a 38-year-old 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>G (p.Leu882*) in exon-5 of the REST gene. This study confirms that exon-5 REST variants cause JS.","dates":{"release":"2026-01-01T00:00:00Z","publication":"2026 Jan","modification":"2026-06-05T22:18:07.491Z","creation":"2026-05-22T03:15:23.185Z"},"accession":"S-EPMC12674978","cross_references":{"pubmed":["40605398"],"doi":["10.1111/cge.70017"]}}