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 phenotype. Exome sequencing identified a repressor element 1-silencing transcription factor (REST) (NM_005612.5) c.2670_2673del p.(Glu891Profs*6) variant segregating with Jones syndrome in the family. We review the clinical data from all p… Show more
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