|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of the FMR1 gene in over three generations of females revealed that six carried pre-mutated alleles (61-200), of which two were also affected by POF.
|
17428316 |
2007 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Premature ovarian failure associated with FMR1 premutation at such an early age has not been reported in the literature before.
|
19041959 |
2009 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To assess whether the number of triple CGG expansion of the FMR1 (fragile X) gene, known to correlate at premutation (55-200 repeats) and full mutation (>200 repeats) ranges with risk toward premature ovarian failure (POF), also correlates with milder forms of premature ovarian senescence.
|
18384775 |
2009 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
FMR1 premutation carriers of CGG repeats are supposed to be at increased risk for POF.
|
30030199 |
2018 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Premutation range CGGn repeats of the FMR1 gene denote risk toward primary ovarian insufficiency (POI), also called premature ovarian failure (POF).
|
28454580 |
2017 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Based on the current evidence, we concluded that intermediate-sized FMR1 CGG repeat alleles should not be considered as a high-risk factor for POF and DOR.
|
27876427 |
2017 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Presently, guidelines for FMR1 genetic testing includes early menopause, congenital intellectual disability, autism spectrum disorder, tremor or ataxia, and a family history of FXTAS or fragile X syndrome.
|
21926154 |
2011 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mapping of the POF1 locus and identification of putative genes for premature ovarian failure.
|
10729312 |
2000 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Number of CGG repeats in the FMR1 gene of Japanese patients with primary ovarian insufficiency.
|
21944929 |
2011 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our patient demonstrates that a distal X-breakpoint involving POF1 locus is able to cause POF without virilization during adolescence.
|
20425841 |
2010 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the FMR1 gene are associated with fragile X syndrome, fragile X tremor ataxia syndrome, and premature ovarian insufficiency.
|
23765048 |
2013 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Participants have been investigated in cytogenetic analysis followed by FMR1 repeat size expansions and search of variants for nine premature ovarian insufficiency-associated genes.
|
31026518 |
2019 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Non-coding (CGG-repeat) expansions in the fragile X mental retardation 1 (FMR1) gene result in a spectrum of disorders involving altered neurodevelopment (fragile X syndrome), neurodegeneration (late-onset fragile X-associated tremor/ataxia syndrome), or primary ovarian insufficiency.
|
19460937 |
2009 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The most common single-gene cause of POF is premutation carriers for FMR1 (fragile X syndrome).
|
24782005 |
2014 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
One in 3.5 women with a family history of fragile X and 1 in 10 with premature ovarian failure had a FMR1 mutation.
|
18310361 |
2008 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We explored whether AMH, as a surrogate for oocyte supply, varies by FMR1 genotype in women diagnosed with diminished ovarian reserve (DOR), a subset of the Primary Ovarian Insufficiency phenotype.
|
24938362 |
2014 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
FMR1 low sub-genotype does not rescue BRCA1/2-mutated human embryos and does not explain primary ovarian insufficiency among BRCA1/2-carriers.
|
23760159 |
2013 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The frequency of X-chromosome mosaicism in women with sporadic POF has been found to range between 3 and 10%, whereas the prevalence of POF in carriers of the FMR1 premutation is estimated to range between 13 and 25%.
|
20575655 |
2011 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene are associated with autism spectrum disorder in childhood, premature ovarian failure, and the neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS).
|
17166860 |
2007 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Diminished ovarian reserve (DOR) and premature ovarian failure are associated with elevated FMR1 CGG repeat alleles.
|
24788194 |
2014 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
While translocations in the region may lead to ovarian dysfunction by disrupting normal meiosis or by a position effect, two recent reports of patients with premature ovarian failure and Xq deletions suggest that there is a gene (POF1) localized to Xq21.3-q27 [Krauss et al., N Engl J Med 317:125-131, 1987; Davies et al., Cytogenet Cell Genet 58:853-966, 1991] or within Xq26.1-q27 [Tharapel et al., Am J Hum Genet 52:463-471, 1993] responsible for POF.(ABSTRACT TRUNCATED AT 250 WORDS)
|
7977456 |
1994 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Premutation and intermediate CGG repeat length at the fragile X mental retardation 1 (FMR1) locus have been associated with premature ovarian failure.
|
24423935 |
2014 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We therefore conclude that intermediate sized FMR1 CGG repeat alleles should not be considered a high-risk factor for POF based on current evidence.
|
20228389 |
2010 |
|
Premature Menopause
|
0.200 |
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 Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To increase awareness of the unique clinical and ethical considerations invoked by the request of a patient with premature ovarian failure (POF) and her nulliparous sister, both with intermediate-size mutations in fragile X mental retardation 1 (FMR1), to pursue sibling ovum donation.
|
19410248 |
2009 |