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 ?
The second model describes a normal oocyte pool characterized by increased rates of follicular atresia owing to the toxic effect of FMR1 mRNA accumulation.
Screening for CGG repeat expansion in the FMR1 gene by melting curve analysis of combined 5' and 3' direct triplet-primed PCRs.
He believes that the new knowledge of the FMR1 gene may also apply to a number of other syndromes that are characterised by a reduction in cognitive function.
"We found that egg cells lacking Fmr1 were at first completely normal; but over time, if they were stored, they lost function much faster than stored eggs with normal Fmr1, which is reminiscent of the human ovarian failure syndrome.
Women with a premutation or a full mutation have a 50 percent risk of transmitting the affected X chromosome with the FMR1 gene alteration during each pregnancy.
Fragile X-associated Disorders (FXD) can be passed on by carriers of the FMR1 gene mutation who have no apparent signs of an FXD.
Mutations in NKX2-5 (5q35.1), GATA4 (8q23.1), ZFPM2 (8q23.1), GATA6 (18q11.2), GDF1 (19p13.11), JAG1 (20p12.2), and TBX1 (22q11.21) have been reported in sporadic cases with tetralogy of Fallot; however, interaction of these genes and FMR1 gene has never been reported [49].
Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation.
PCR followed by capillary electrophoresis for detecting and sizing expansions in the FMR1 5' UTR, as recommended by the American College of Medical Genetics and Genomics (1), has been previously described (15).
Differences in ovarian aging pattern between races we associate ovarian genotypes and subgenotypes of FMR1 gene.
El SXF es una enfermedad genetica causada por la expansion inestable de la tripleta CGG en el gen FMR1; existen cuatro rangos de cantidad de tripletas: hasta 44, normal; 45-55, zona gris, que se puede expandir heredando el alelo en premutacion; 55-200, premutacion, y puede presentar sindromes asociados como temblor-ataxia (STAFX) y falla ovarica primaria (FOPFX), ademas de expandir heredando el alelo con mutacion completa; y mas de 200 repeticiones, mutacion completa (MC) la cual causa el SXF con discapacidad intelectual, facies particulares y trastornos del lenguaje.