Novel Pathogenic Variant Confirms the Association of <i>REST</i> and Jones Syndrome

Exploring foci of: Clinical Genetics Novel Pathogenic Variant Confirms the Association of <i>REST</i> and Jones Syndrome July 2025 • Valentina Lodato, Massimo Galli, Giacomo D’Angeli, Irene Bottillo, Luca Celli, Rosaria Turchetta, Andrea Colizza, Francesca Gianno, Biagio Palmisano,… 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 Sequen… Open Article Page

Frameshift Mutation Exome Sequencing Loss Of Heterozygosity Biology Mutation Medicine Internal Medicine Open Article