Fragile Mental Retardation 2 is a gene (FMR2: synonym AFF2), located on the human X chromosome. Mutations in this gene are associated with X linked mental retardation and specifically a syndrome known as FRAXE.[1]

The most common mutation giving rise to this syndrome is a triplet expansion of CCG which leads to a silencing of the gene. Mutations within the gene may also cause this phenotype.

Refernences

  1. ^ Stettner GM, Shoukier M, Höger C, Brockmann K, Auber B (2011) Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion. Am J Med Genet A. doi: 10.1002/ajmg.a.34122
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