FMR1

(redirected from FRAXA)
Also found in: Acronyms.

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.
Mentioned in ?
References in periodicals archive ?
FRAXA's mission is to find effective treatments and ultimately a cure for Fragile X Syndrome - the most common inherited cause of autism worldwide.
In this study, we have used a pattern searching algorithm on the combined data from these studies to identify motifs in the DNA surrounding aberrantly methylated CpGs found in the DNA of patients with one of the three TNR expansion diseases: FRAXA, DM1, or FRDA.
Prior to this, the diagnostic test was based exclusively on cytogenetic detection of the FRAXA fragile site.
A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci.
Genetic testing for FRAXA was carried out for all the family members of MR cases recruited.
Kanis, FRAXa is endorsed by the IOF and the NOF in its new Clinician's Guide to Prevention and Treatment of Osteoporosis (2008).
Increasing age has been significantly correlated with lower IQ scores in children with Williams-Beuren syndrome and FRAXA, but not with NF1.
Los efectos fenotipicos de las amplificaciones pueden ser mas complejos de lo que por ahora estamos observando y clasificando como alguna enfermedad en particular, el ejemplo mas claro lo constituyen los estudios clinicos mas detallados de grupos de familiares portadores de premutaciones en FRAXA (alelos dentro del rango entre 50 y 200 repeticiones); que han puesto en evidencia que la condicion conocida como premutacion, si bien es cierto no causa retardo mental, causa otras patologias en los adultos.
Both diseases are disabling and have anticipation in common, meaning increasing severity of disabilities in subsequent generations in FRAXA, and both increasing severity and earlier age of onset in the case of muscular dystrophy type 1 (Morales et al.
107 Fairfax, VA 22030-2208 (800) 929-4040 (703) 691-2713 (fax) http://www.foodallergy.org ??fan@worldweb.net 1,2,4,5,6,7,9; FORBES DISEASE See: Glycogen Storage Diseases; Muscular Dystrophy FRAGILE X SYNDROME See also: Attention Deficit Disorder; Autism; Learning Disabilities FRAXA Research Foundation 45 Pleasant St.
107 Fairfax, VA 22030-2208 (800) 929-4040 (703) 691-2713 (fax) ??fan@worldweb.net http://www.foodallergy.org 1,2,3,4,6,7 FORBES DISEASE See: Glycogen Storage Diseases; Muscular Dystrophy FRAGILE X SYNDROME See also: Attention Deficit Disorder; Autism; Learning Disabilities FRAXA Research Foundation 45 Pleasant St.
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention; Genetic Alliance (lead); FRAXA Research Foundation; GeneTests; National Coalition for Health Professional Education in Genetics; National Council of La Raza; National Fragile X Foundation; Parent Project Muscular Dystrophy; University of Maryland School of Medicine.