Jones Syndrome: a systematic literature review
Authors
Francesca Romana Federici, Gianluca Gambarini, Valentina Vannini, Vanessa Guarino, Carlotta Galli, Dario Di Nardo, Luca Testarelli, Massimo Galli
Abstract
Background: Jones syndrome is an extremely rare genetic condition characterized by the coexistence of gingival fibromatosis and progressive sensorineural hearing loss. It is an autosomal dominant disorder whose genetic basis has been identified, through exome sequencing technology, as pathogenic mutations in exon 5 of the Repressor Element 1 Silencing Transcription Factor (REST) gene. The aim of this review was to evaluate whether the integration of genetic testing supports and enhances the diagnostic accuracy of Jones syndrome compared with clinical assessment alone. Methods: An electronic and manual search was conducted in August 2025 across multiple databases (PubMed, Cochrane Library, Google Scholar, Scopus, and Web of Science) in accordance with PRISMA guidelines. Two independent reviewers performed the search. From eligible studies, the following data were extracted: author and year of publication, study design, patient age and sex, oral manifestations, systemic manifestations, diagnostic and therapeutic approaches, severity of gingival fibromatosis, and degree of sensorineural hearing loss (SNHL). Any disagreements were resolved through discussion with a third reviewer and by consensus. Results: The electronic and manual search retrieved 9,864 records. After removal of duplicates (n = 15) and title screening, 9,837 articles were excluded, leaving 12 articles for abstract and full-text screening. Two articles were excluded because the full text was unavailable. After full-text assessment, four additional articles were excluded, resulting in six studies included in the review. The included studies comprised four case reports without genetic analysis and two studies including Repressor Element 1 Silencing Transcription Factor (REST) gene analysis documenting familial co-segregation. Conclusions: REST gene analysis currently represents an essential diagnostic tool, as it complements the clinical workup, increases diagnostic accuracy, and opens new perspectives for the management and support of patients with Jones syndrome.
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