fragile X syndrome

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fragile X syndrome

n.
An inherited disorder caused by a defective gene on the X chromosome and marked by intellectual disability, developmental disorders, enlarged testes, and facial abnormalities in males and by mild or no effects in heterozygous females.

fragile X syndrome


n.
a widespread form of mental retardation caused by a faulty gene on the X chromosome.
[1980–85]
References in periodicals archive ?
The disorder is caused by transcriptional shutdown in neurons of the FMR1 gene product, the Fragile X mental retardation protein. Fragile X, a childhood neurological disorder that afflicts approximately 135,000 individuals in the U.S., is characterized by widespread loss of synaptic connections and occurs early in the neurological development process.
Fragile X mental retardation protein (FMRP) is widely expressed in neurons and glia in the brain and acts as an "interactor" regulating ribosome stalling, translational control, and synaptic plasticity in brain circuits [1-3].
Fragile X syndrome results from mutations in the FMR1 gene, which blocks expression of the Fragile X Mental Retardation Protein (FMRP), an important protein in GABA synthesis.
In Fragile X syndrome, the gene coding for a protein that plays a critical role in typical brain development and function (called the "fragile X mental retardation protein," or FMRP) has a "full mutation" that virtually abolishes the manufacturing of FMRP.