Kleine-Levin syndrome
Gene: TRPV4Comment on phenotypes: reformatted phenotypeCreated: 30 Nov 2017, 10:58 a.m.
Comment when marking as ready: Potential involvement of TRPV4 in the twins mentioned in PMID 22547884 is from personal communication with the author, Rosa Peraita-Adrados. There is no mention of the genetic variants in this publicationCreated: 24 Jan 2017, 2:15 p.m.
Rosa Peraita-Adrados et al. Monozygotic Twins Affected with Kleine-Levin Syndrome.
Sleep 2012; 35(5):595-6.Created: 19 Dec 2016, 3:35 p.m.
Transient receptor potential vanilloid (TRPV4) is a brodly expressed Ca(2+) permeable catión channel in the vanilloid subfamily of transient receptor potential channels.
It is activated by warm temperature, lipids downstream of arachidonic acid metabolism, hypoosmolarity, or mechanical stimulation.Mutations in TRPV4 are associated with dominant neuropathies.Created: 19 Dec 2016, 3:28 p.m.
Mode of inheritance
Unknown
Phenotypes
Monozygotic twins concordant for Kleine-Levin Syndrome; recurrent hypersomnia; behavioral disturbances; compulsive eating and drinking (or decreased eating); sexual disinhibition; irritability; confusion; feeling of unreality; altered tactile, gustative, and olphatory perceptions; apathy; impaired speech; impaired memory; depression and anxiety; transient symptoms at the end: amnesia; moderate elation and insomnia; normality between episodes: HLA typing heterozygosity; DQB1*06:01; VARICOCELE.
Publications
Phenotypes for TRPV4 were set to Monozygotic twins concordant for Kleine-Levin Syndrome; recurrent hypersomnia; behavioral disturbances; compulsive eating and drinking (or decreased eating); sexual disinhibition; irritability; confusion; feeling of unreality; altered tactile, gustative, and olphatory perceptions; apathi; impaired speech; impaired memory; depression and anxiety; transient symptoms at the end, amnesia, moderate elation and insomnia; normality between episodes
Rosa Peraita-Adrados (Sleep and Epilepsy Unit-Clinical Neurophysiology Service. Gregorio Maranon University Hospital. Complutense University of Madrid (UCM).Madrid.Spain.), agrees with the status of the gene on this panel, although she has not reviewed every gene individually
This gene has been classified as Red List (Low Evidence).
Publications for TRPV4 were set to 22547884
Mode of inheritance for TRPV4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Red List (Low Evidence).
TRPV4 was added to Kleine-Levin syndromepanel. Sources: Expert Review
TRPV4 was created by Maropa