fragile X syndrome

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Related to FMR1: FMRP, FRAXA, FXTAS

fragile X syndrome

n.
An inherited disorder caused by a defective gene on the X chromosome and marked by intellectual disability, developmental disorders, enlarged testes, and facial abnormalities in males and by mild or no effects in heterozygous females.
American Heritage® Dictionary of the English Language, Fifth Edition. Copyright © 2016 by Houghton Mifflin Harcourt Publishing Company. Published by Houghton Mifflin Harcourt Publishing Company. All rights reserved.

fragile X syndrome


n.
a widespread form of mental retardation caused by a faulty gene on the X chromosome.
[1980–85]
Random House Kernerman Webster's College Dictionary, © 2010 K Dictionaries Ltd. Copyright 2005, 1997, 1991 by Random House, Inc. All rights reserved.
References in periodicals archive ?
Because her FSH concentration was increased in the setting of hypoestrogenism, PCR testing of the FMR1 5' UTR identified the patient as having an FMR1 premutation allele with 82 CGG repeats and the second allele containing 51 CGG repeats (reference intervals: normal, 5-44 repeats; intermediate, 45-54; premutation, 55-200; full mutation, >200 repeats), resulting in a conclusive diagnosis of FXPOI.
27 May 2014 - Singaporean clinical testing specialist Biofactory Pte Ltd said Monday that its FastFraX FMR1 Identification Kit, finding and screening mutations in the Fragile X mental retardation 1 (FMR1) gene that causes Fragile X syndrome (FXS), had been CE-marked.
We recently described a single-step, closed-tube, and readily scalable strategy for rapid large-scale screening detection of FMR1 expansion mutations by melting curve analysis (MCA) of triplet-primed PCR products from unmodified genomic DNA (3).
Francois Bolduc's breakthrough study is significant for humans too, as FMR1 may malfunction in people with intellectual disabilities like Fragile X syndrome, and there are currently no clinically available treatments.
Their work focuses on a gene called Fmr1. Mutations in this gene create problems in the brain as well as the reproductive system.
Initial genetic studies: In the initial study of the dysmorphic features and mental retardation, we determined the karyotype (46XX), investigated the subtelomeric regions and the FMR1 gene, which were normal.
The FMR1 (Fragile X) premutation carrier status could be a cause, or presence of 21-hydroxylase and/or adrenal antibodies indicate autoimmune polyglandular syndrome.
Fragile X syndrome results from mutations in the FMR1 gene, which blocks expression of the Fragile X Mental Retardation Protein (FMRP), an important protein in GABA synthesis.
In order to monitor the possibility of various health issues, Blood test, Pregnancy test, FSH Test (Follicle-Stimulating Hormone)-to assess the FSH hormone that stimulate the growth of follicles in the ovaries, Estradiol Test (Type of estrogen), Prolactin Test-To detect the Prolactin hormone that stimulate breast milk, and Karyotype Test-To examine the chromosome for abnormalities and FMR1 Gene testing are conducted.
Similar upregulation of spine turnover in the neocortex was reported in Fmr1 knockout mice, a fragile X syndrome and syndromic autistic mouse model, supporting the hypothesis of shared synapse-level phenotypes across ASD mouse models with heterogeneous genetic mutations.
At the University of California, Davis, School of Medicine, scientists have demonstrated that long-read sequencing can be used to get through the FMR1 gene, which harbors the repeat expansion responsible for fragile X syndrome.