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fragile X syndrome

an X-linked recessive syndrome consisting of mental retardation, a characteristic facies, and macroorchidism. DNA analysis shows abnormal trinucleotide repeats on the X chromosome near the end of its long arm, at Xq27.3. Constriction is demonstrable at this site on karyotyping after culture in folate-deficient medium.
See also: Renpenning syndrome.


A gene on chromosome Xq27.3 that encodes a protein which binds RNA, is associated with polysomes and may be involved in mRNA trafficking from the nucleus to the cytoplasm.

Molecular pathology
Expansion of the number of trinucleotide (CGG) repeats more than the usual number (up to 53) is associated with fragile X syndrome and a form of premature ovarian failure.


Abbreviation for fragile X syndrome.
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References in periodicals archive ?
Song et al., "Premutation in the Fragile X mental retardation 1 (FMR1) gene affects maternal Zn-milk and perinatal brain bioenergetics and scaffolding," Frontiers in Neuroscience, vol.
27 May 2014 - Singaporean clinical testing specialist Biofactory Pte Ltd said Monday that its FastFraX FMR1 Identification Kit, finding and screening mutations in the Fragile X mental retardation 1 (FMR1) gene that causes Fragile X syndrome (FXS), had been CE-marked.
The research team claim to have developed specific and quantitative means of measuring levels of the fragile X mental retardation 1 (FMR1) protein (FMRP), which is mutated in fragile X syndrome.

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