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GENATLAS PHENOTYPE
last update : 31-05-2010
Symbol BFPP
Location 16q21
Name bilateral frontoparietal polymicrogyria
Corresponding gene GPR56
Main clinical features
  • mild to severe mental retardation esotropia and seizures, language impairment, cerebellar ataxia with neuronal migration defect, abnormal layering or excessive folding of the cortex, mainly in the frontal lobe
  • associated with infantile spasms and with Lennox-Gastaut syndrome (PMID: 19016831))
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name G protein-coupled receptor 56
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function located in the predicted extracellular regions, impair GPR56 protein trafficking and cell surface expression, resulting in a devastating brain malformation
    Remark(s) . all identified BFPP-associated missense mutations are located within the extracellular region of GPR56 including the ECD, GPS, and the extracellular loops of 7TM, and mutant proteins were retained mostly in ER (PMID: 21349848))
    Genotype/Phenotype correlations C346S mutation, in the GPS domain causes a more severe phenotype characterized by an excessively small cerebral cortex called microcephaly, in addition to BFPP