Pathogenic REST variant causing Jones syndrome and a review of the literature

Abstract

Jones syndrome is a rare dominantly inherited syndrome characterized by gingival fibromatosis and progressive sensorineural hearing loss becoming symptomatic in the second decade of life. Here, we report a father and his two daughters presenting with a typical Jones syndrome (OMIM %135550) phenotype. Exome sequencing identified a repressor element 1-silencing transcription factor (REST, OMIM *600571) (NM_005612.5) c.2670_2673del p.(Glu891Profs*6) heterozygous variant segregating with Jones syndrome in the family. We review the clinical data from all previously published patients with Jones syndrome and previously published patients with pathogenic REST variants associated with gingival fibromatosis or sensorineural hearing loss. This study suggests that pathogenic REST variants cause Jones syndrome.

Syndromes of head and neck region associated with gingival findings

“…Additionally, regular expert cleanings might lessen the frequency of recurrence [36] . [21] -Hearing loss -Deafness…”

2023 in the European Journal of Human Genetics

“…In April 2023, REST variants were identified as the cause of Jones syndrome (a dominant syndrome characterised by gingival fibromatosis and hearing loss) [13]. An affected father, and 2 children, underwent exome sequencing.…”

April, again

“…In 1977, a condition of progressive gingival fibromatosis and deafness was reported by Jones. A specific variant in the REST gene is reported as causing Jones syndrome [8]. Nakano and Bánfi provide an insightful commentary on the historical aspects and genetic mechanisms [9].…”