fragile X syndrome

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Related to FMR1: FMRP, FRAXA, FXTAS

fragile X syndrome

[‚fraj·əl ′eks ‚sin‚drōm]
(medicine)
A hereditary condition resulting from a trinucleotide repeat at an inherited fragile site on the long arm of the X chromosome. Affected males usually have some characteristic facial features, enlarged testes, and mental retardation. Females with on fragile X chromosome and one normal X chromosome may have a lesser degree of mental retardation.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.
References in periodicals archive ?
One factor that modulates the stability of FMR1 CGG repeats is the frequency of AGG interspersions within the CGG repeat track.
The Methylation Status Kit finds whether the defective FMR1 gene produces protein and confirms if a person has FXS.
Both FMR1 genotype classes are actionable, because early identification enables genetic counseling and preemptive action to mitigate risks for FXPOI and FXS-affected offspring.
"The evidence clearly showed that the flies without the FMR1 gene really weren't operating at the same capacity as the control group," said Bolduc.
Previous work had suggested that Fmr1 prevents the stored RNA molecules from overproducing new proteins.
Fragile X-associated primary ovarian insufficiency (FXPOI) is characterized by decreased ovarian function, which can lead to infertility and early menopause in some female carriers of the FMR1 gene.
Repeat expansion in the FMR1 leads to deacetylation of histones H3 and H4 in the locus.
In this study, autistic-like behaviors were described in 27% of unrelated patients; however, only two patients were diagnosed with autism before the FMR1 DNA testing was performed.
Examination of reproductive aging milestones among women who carry the FMR1 premutation.
The syndrome is caused by the expansion of a CGG microsatellite repeat sequence in the 5' untranslated region (UTR) of the fragile X mental retardation 1 (FMR1) gene (HGNC 3775), ultimately leading to methylation and silencing of FMR1 (1).
This variation has been recently associated with specific ovarian genotype and subgenotype of FMR1 gene.14