KEGG   VARIANT: 7204v1
Entry
7204v1                      Variant                                
Name
TRIO mutation
Type
Loss of function
Gene
TRIO  trio Rho guanine nucleotide exchange factor [KO:K08810]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601893
Network
nt06541  Cytoskeleton in neurons
nt06546  IgSF CAM signaling
Disease
H00773  Autosomal dominant intellectual developmental disorder
Reference
  Authors
Barbosa S, Greville-Heygate S, Bonnet M, Godwin A, Fagotto-Kaufmann C, Kajava AV, Laouteouet D, Mawby R, Wai HA, Dingemans AJM, Hehir-Kwa J, Willems M, Capri Y, Mehta SG, Cox H, Goudie D, Vansenne F, Turnpenny P, Vincent M, Cogne B, Lesca G, Hertecant J, Rodriguez D, Keren B, Burglen L, Gerard M, Putoux A, Cantagrel V, Siquier-Pernet K, Rio M, Banka S, Sarkar A, Steeves M, Parker M, Clement E, Moutton S, Tran Mau-Them F, Piton A, de Vries BBA, Guille M, Debant A, Schmidt S, Baralle D
  Title
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
  Journal
Am J Hum Genet 106:338-355 (2020)
DOI:10.1016/j.ajhg.2020.01.018
Reference
  Authors
Ba W, Yan Y, Reijnders MR, Schuurs-Hoeijmakers JH, Feenstra I, Bongers EM, Bosch DG, De Leeuw N, Pfundt R, Gilissen C, De Vries PF, Veltman JA, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Nadif Kasri N, De Vries BB
  Title
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.
  Journal
Hum Mol Genet 25:892-902 (2016)
DOI:10.1093/hmg/ddv618
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