Relevance to Autism

According to a review (Dykens and Volkmar, 1997) of 14 studies, the percentages of individuals with Fragile X syndrome who met criteria for autism varied from 5 to 60%, with 7 studies finding more than 20%. As well, polymorphisms in the FMR1 gene have been found to be associated with autism. However, other studies have found no genetic association or only relatively rare identification of FMR1 with autism. Separately, several studies have found a CGG repeat polymorphism as well as rare variations in the FMR1 gene identified with Fragile X syndrome and general cognitive function.

Molecular Function

The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome.

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Model Summary

Fmr1 protein null rats show increase in perseverative behavior, juvenile play and sensorimotor gating.

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