|
Premature Ovarian Failure 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Fragile X mental retardation 1 (FMR1) CGG repeat expansions cause fragile X syndrome-the leading monogenic form of intellectual disability-and increase the risk for fragile X-associated tremor ataxia syndrome and fragile X-associated primary ovarian insufficiency.
|
30847793 |
2019 |
|
Premature Ovarian Failure 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
FMR1 premutation carriers (55-200 CGGs) are at risk of developing Fragile X-associated primary ovarian insufficiency as well as Fragile X-associated tremor/ataxia syndrome.
|
29604051 |
2018 |
|
Premature Ovarian Failure 1
|
0.600 |
Biomarker
|
disease |
BEFREE |
Using coculture systems, we also found that POF1 or GCs from POF1 (POF1-GCs) significantly promote the proliferation of theca externa cells of small white follicles (SWFs, one phase of the prehierarchical follicle).
|
29923198 |
2018 |
|
Premature Ovarian Failure 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Fragile X mental retardation type 1 (FMR1) gene premutation is the first single-gene cause of primary ovarian failure (Fragile X-associated primary ovarian insufficiency [FXPOI]) and one of the most common causes of ataxia (fragile X-associated tremor/ataxia syndrome [FXTAS]), multiple additional phenotypes such as fibromyalgia, hypothyroidism, migraine headaches, sleep disturbances, sleep apnea, restless legs syndrome, central pain syndrome, neuropathy and neuropsychiatric alterations has been described.
|
28617938 |
2018 |
|
Premature Ovarian Failure 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are disorders seen in carriers of FMR1 alleles with 55-200 repeats.
|
28866801 |
2017 |
|
Premature Ovarian Failure 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Women who carry the FMR1 PM are at 20-fold increased risk to develop primary ovarian insufficiency (FXPOI).
|
26537920 |
2016 |
|
Premature Ovarian Failure 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Premutations in the fragile X mental retardation 1 (FMR1) gene cause fragile X-associated tremor/ataxia syndrome (FXTAS) and FMR1-related primary ovarian insufficiency (POI).
|
27230899 |
2016 |
|
Premature Ovarian Failure 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Fragile X-associated primary ovarian insufficiency (FXPOI) is caused by inheritance of the FMR1 premutation allele and approximately 20% of women with the premutation allele develop ovarian dysfunction and premature ovarian insufficiency.
|
27695106 |
2016 |
|
Premature Ovarian Failure 1
|
0.600 |
Biomarker
|
disease |
BEFREE |
A total of 16 unrelated female individuals (6 FMR1 premutated females with FXPOI; 6 FMR1 premutated females without FXPOI; and 4 no-FXPOI females) were studied by whole human genome oligonucleotide microarray (Agilent Technologies).
|
26095811 |
2015 |
|
Premature Ovarian Failure 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Premutation alleles in fragile X mental retardation 1 (FMR1) can cause the late-onset neurodegenerative disorder, fragile X-associated tremor ataxia syndrome (FXTAS) and/or the fragile X-associated primary ovarian insufficiency in approximately 20% of heterozygotes.
|
25399540 |
2015 |
|
Premature Ovarian Failure 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
CGG repeat expansion in the FMR1 gene is associated with fragile X syndrome, fragile X-associated tremor/ ataxia syndrome and fragile X-associated primary ovarian insufficiency.
|
25366135 |
2015 |
|
Premature Ovarian Failure 1
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
The molecular similarities of FXTAS and FXPOI (e.g. overabundance of FMR1 transcript and intranuclear inclusions) suggest that similar molecular mechanisms underlie both FXTAS and FXPOI.
|
25134882 |
2014 |
|
Premature Ovarian Failure 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Male premutation carriers presenting between 55 and 200 CGG repeats in the Fragile-X-associated (FMR1) gene are at risk of developing Fragile X Tremor/Ataxia Syndrome (FXTAS), and females undergo Premature Ovarian Failure (POF1).
|
24418349 |
2014 |
|
Premature Ovarian Failure 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
FMR1 premutation carriers are common in the general population (1/130-260 females and 1/250-810 males) and can be affected by fragile X-associated tremor ataxia syndrome, fragile X-associated primary ovarian insufficiency, anxiety, depression, hypertension, sleep apnea, fibromyalgia, and hypothyroidism.
|
23373759 |
2013 |
|
Premature Ovarian Failure 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The expanded CGG mutation in the FMR1 gene, once thought to have clinical significance limited to fragile X syndrome, is now well established as the cause for other fragile X-associated disorders including fragile X-associated primary ovarian insufficiency and fragile X-associated tremor ataxia syndrome in individuals with the premutation (carriers).
|
23129072 |
2012 |
|
Premature Ovarian Failure 1
|
0.600 |
Biomarker
|
disease |
BEFREE |
FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States.
|
21116185 |
2011 |
|
Premature Ovarian Failure 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Women who carry a fragile X mental retardation 1 premutation are at risk for fragile X-associated primary ovarian insufficiency and should be counseled for a potentially reduced fertility.
|
21597380 |
2011 |
|
Premature Ovarian Failure 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Following the discovery of two disorders associated with premutation alleles of the fragile X mental retardation gene (FMR1), primary ovarian insufficiency [fragile X-associated primary ovarian insufficiency (FXPOI)] and a tremor/ataxia syndrome [fragile X-associated tremor/ataxia disorder (FXTAS)], numerous studies have examined other potential co-morbid conditions, including neuropsychological deficits.
|
20059484 |
2010 |
|
Premature Ovarian Failure 1
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The FMR1 premutation allele, however, also places female carriers at significantly increased risk for prematurely diminished ovarian function, which we refer to as fragile X-associated primary ovarian insufficiency (FXPOI).
|
18574214 |
2008 |
|
Premature Ovarian Failure 1
|
0.600 |
Biomarker
|
disease |
CTD_human |
Female carriers of fragile X premutations have no increased risk for additional diseases other than premature ovarian failure.
|
12548733 |
2003 |
|
Premature Ovarian Failure 1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|