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GENATLAS PHENOTYPE
last update : 19-10-2021
Symbol MRT6
Location 6q16.3
Name mental retardation autosomal recessive 6
Corresponding gene GRIK2
Other symbol(s) MRAR4
Main clinical features
  • nonsyndromic mental retardation, moderate-to-severe , Iranian family; neurodevelopmental disorder (NDD) with intellectual disability and developmental delay, ataxia, and speech impairment.
    • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   abnormal protein/loss of function lacking the first ligand-binding domain, the adjacent transmembrane domain, and the putative pore loop
    Remark(s) . presence of severe epilepsy in individuals with the p.Thr660Lys variant and hypomyelination in individuals with either the p.Thr660Lys or p.Thr660Arg variant; these results demonstrate that human GRIK2 variants predicted to alter channel function are causative for early childhood development disorders; the four GRIK2 variants implicated are positioned in critical structural domains in the GriK2 subunit protein (PMID: 34375587))