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 ?
FMR1 and the fragile X syndrome: human genome epidemiology review.
Our method brings carrier testing for abnormal FMR1 alleles on par with these conditions with a 10-fold improvement over current approaches.
El silenciamiento del gen FMR1 es el resultado de una serie de complejas modificaciones epigeneticas concomitantes a la expansion de la tripleta CGG en el gen (15).
Screening for expanded alleles of the FMR1 genein blood spots from newborn males in a Spanish population.
The most recently recognized complication of FMR1 premutation is the Fragile X Tremor/Ataxia syndrome (FXTAS).
Pensando en dichas condiciones medicas y los problemas devenidos del hipoestrogenismo, se medira la presion arterial y se solicitara en el estudio de estas mujeres una densitometria de la masa osea, perfil lipidico, anticuerpos suprarrenales, descartar tiroiditis, cariotipo y permutaciones del gen FMR1 (33,34), entre otros.
From the southern part of India, CGG repeat analysis of the FMR1 gene showed the 28 and 31 repeat alleles to be most predominant (11).
Fragile X syndrome [FXS], is a genetic disorder involving multiple repeats of the FMR1 gene.
A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.
It is actually a cluster of conditions that are caused by gene mutations on the FMR1 gene.
An individual with fragile X syndrome is defined as a male or female who has the FMR1 full mutation, regardless of his or her clinical manifestations.
Normally, FMR1 throttles down protein production in the brain's nerve cells, so people without a functioning FMR1 gene produce excess protein.