FMR1


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Related to FMR1: FMRP, FRAXA, FXTAS

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.

FMR1

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.

FMR1

Abbreviation for fragile X syndrome.
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References in periodicals archive ?
018) with the FMR1 activation ratio determined using methylation-sensitive Southern blot, which represents the methylation status of the FMR1 CpG island 5' of the expansion on normal-size alleles in these females.
Testing for FMR1 repeat expansions is widely available through most clinical laboratories and requires only a small blood sample.
FMR1 and the fragile X syndrome: human genome epidemiology review.
One factor that modulates the stability of FMR1 CGG repeats is the frequency of AGG interspersions within the CGG repeat track.
He analysed the FMR1 genes in 316 women attending his fertility clinic, and took a snapshot of their ovarian reserve by measuring levels of a hormone called anti-Mullerian hormone (AMH), an indicator of how many eggs are currently maturing in the ovaries.
A study of the distributional characteristics of FMR1 transcript levels in 238 individuals.
Full mutation (FM) [1] and premutation (PM) expansions of the fragile X mental retardation 1 (FMR1) CGG repeat are the underlying causes of 3 FMR1 -related disorders: fragile X syndrome (FXS), fragile X-associated primary ovarian insufficiency (FXPOI), and fragile X-associated tremor/ataxia syndrome (FXTAS) (1).
The American Society for Reproductive Medicine and the National Institutes of Health convened experts last October to work on draft guidelines for the identification and management of the FMR1 premutation and premature ovarian failure.
MEN-2) Hereditary hemochromatosis HFE (C282Y, H63D) Familial adenomatous APC polyposis of the colon Cystic fibrosis CFTR Canavan disease ASPA Fragile X syndrome FMR1 Alpha-1-antitrypsin PI (ATT) deficiency Neurofibromatosis NF 1, NF 2 Marfan's syndrome FBN1 Osteogenesis imperfecta COL1A1, COL1A2 types I-IV Myotonic dystrophy DM 1 Adult polycystic kidney PKD1, PKD2, PKHD1 disease DISEASE INCIDENCE/PREVALENCE Huntington's disease 1 in 1,000 (carriers); 30,000 have the disease RET oncogene (multiple Approximately 200 new cases endocrine neoplasia type-2.
It involves a mutation of the FMR1 gene on the X chromosome.
It is largely caused by full-mutation (FM) CGG repeat expansions in the 5' untranslated region of the FMR1 (fragile X mental retardation 1) gene on the X chromosome, which lead to hypermethylation of both the expanded CGG repeat tract and the upstream promoter region, as well as to transcriptional silencing of FMR1 (3, 4).