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

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.

A short survival time after last psychiatric hospitalization in drivers with psychotic disorder killed in fatal motor vehicle accidents.

BACKGROUND: Research-based evidence on patients with psychotic disorders involved in fatal motor vehicle accidents (FMVA) remains limited. The current study analyzes the characteristics of FMVA drivers, who had been hospitalized due to psychotic disorders within a five-year-time-period prior to their death in traffic accidents. MATERIAL AND METHODS: Data sources included three national registers: The Finnish Database of Road and Cross-Country Accidents, the Care Register for Health Care and the National Cause of Death Register. The register-linkage was made using personal identity codes, unique for each Finnish citizen. The initial study population consisted of 4930 drivers killed in FMVA in Finland between the years 1990-2011. A total of 94 (1.9%) Finnish drivers had a hospital-diagnosed psychotic disorder made during the five years preceding their FMVA. The psychotic disorders of the study subjects were categorized into: schizophrenia (n = 27, 28.7%), other specified psychoses (n = 39, 41.5%) and unspecified psychoses (n = 28, 29.8%). RESULTS: About one half of the FMVA drivers with schizophrenia or unspecified psychoses and 41% of those with other specified psychoses had been discharged from psychiatric care within three months prior to their death in traffic accidents. CONCLUSIONS: Based on our study findings and the lack of concise guidelines for assessing psychotic patients' fitness-to-drive, we recommend a minimum temporary driving restriction of three months for all patients after hospitalization for psychosis.