A research image of X chromosomes with Fragile X syndrome
Fragile X expression: Researchers long thought fragile X results from gene variants that lengthen and silence FMR1, but newer work suggests many people with the variant still express FMR1, albeit in unusual ways.
Richard J. Green / Science Source

Understanding fragile X syndrome

Just in time for Fragile X Awareness Month, The Transmitter rounds up notable coverage.

July is Fragile X Awareness Month, and in this roundup we highlight some of our coverage of the condition. Fragile X syndrome is one of the most common forms of intellectual disability—and a leading genetic cause of autism. It is linked to variants in the gene FMR1. People with the condition share several traits, including social difficulties typical of autism.

Researchers long thought fragile X was caused by gene variants silencing FMR1. But newer work suggests many people with the variant still express FMR1, albeit in unusual ways. Meanwhile, rodent models lacking FMR1 show differences in sensory processing and repetitive behaviors relative to wildtype animals. Intriguingly, FMRP, the protein encoded by FMR1, is linked to certain cancers, suggesting people with fragile X syndrome may have some form of protection. We have also covered several efforts underway to identify therapies for the syndrome—including approaches involving CRISPR gene editing.

Fragile X syndrome’s link to autism, explained



Illustration of a fragile X syndrome chromosome.New gene-editing method flags fragile X mutation for repair



Unknown isoform adds twist to theory of fragile X origins



Elizabeth Berry-Kravis: Running a marathon for fragile X syndrome



The cloudy connection between fragile X and cancer



Skewed signaling in striatum may spawn repetitive behaviors



Noisy brain may underlie some of autism’s sensory features

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