Frontiers in Molecular Biosciences, 2020 The X-linked FMR1 premutation (PM) is characterized by a 55–200 CGG triplet expansion in the 5′-untranslated region (UTR). Carriers of the PM were originally thought to be asymptomatic; however, they may present general neuropsychiatric manifestations ...
Eleonora Napoli +9 more
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An escalating continuum of learning and attention difficulties from premutation to full mutation in female carriers of FMR1 expansion [PDF]
Frontiers in Neurology, 2023 ObjectiveCarriers of Fragile X premutation may have associated medical comorbidities, such as Fragile X-associated tremor and ataxia (FXTAS) and Fragile X-associated premature ovarian insufficiency (FXPOI). We examined the Fragile X premutation effect on
Lidia V. Gabis +13 more
doaj +2 more sources
Comprehensive, multidisciplinary care for fragile X-associated tremor/ataxia syndrome [PDF]
Frontiers in NeurologyObjectiveThe authors reviewed the pathophysiology, clinical genetics, phenotype, and comprehensive clinical management of Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), a neurodegenerative disorder affecting FMR1 premutation carriers (55–200 CCG ...
James A. Bourgeois +7 more
doaj +2 more sources
PLoS ONE, 2016 CGG repeats in the 5'UTR of Fragile X Mental Retardation 1 (FMR1) RNA mediate RNA localization and translation in granules. Large expansions of CGG repeats (> 200 repeats) in FMR1, referred to as full mutations, are associated with fragile X syndrome ...
René Rovozzo +6 more
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Fragile X Premutation: Medications, Therapy and Lifestyle Advice [PDF]
Pharmacogenomics and Personalized Medicine, 2021 Deepika Kour Sodhi,1 Randi Hagerman1,2 1The MIND Institute, University of California Davis Health, Sacramento, CA, USA; 2Department of Pediatrics, University of California Davis Health, Sacramento, CA, USACorrespondence: Randi HagermanUC Davis MIND ...
Sodhi DK, Hagerman R
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Understanding decreased fertility in women carriers of the FMR1 premutation: a possible mechanism for Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) [PDF]
Reproductive Health, 2014 Fragile X syndrome (FXS) and its associated disorders are caused by the expansion of the CGG repeat in the 5' untranslated region of the fragile X mental retardation 1 gene (FMR1). The full mutation, defined as >200 cytosine-guanine-guanine (CGG) triplet repeats, causes FXS.
exaly +3 more sources
Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations [PDF]
Frontiers in Molecular Neuroscience, 2017 Fragile X syndrome (FXS), is caused by a loss-of-function mutation in the FMR1 gene located on the X-chromosome, which leads to the most common cause of inherited intellectual disability in males and the leading single-gene defect associated with autism.
Limor Man +3 more
doaj +2 more sources
Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders
Frontiers in Genetics, 2014 The Fragile X-related disorders are a group of genetic conditions that include the neurodegenerative disorder, Fragile X-associated tremor and ataxia syndrome (FXTAS), the fertility disorder, Fragile X-associated primary ovarian insufficiency (FXPOI) and
Karen eUsdin +6 more
doaj +2 more sources
Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy [PDF]
Orphanet Journal of Rare DiseasesBackground and objectives Fragile X Syndrome (FXS) is the most common cause of inherited intellectual disability, caused by CGG-repeat expansions (> 200) in the FMR1 gene leading to lack of expression.
Federica Alice Maria Montanaro +8 more
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Case Report and a Brief Review on Fragile X Associated Premature Ovarian Insufficiency (FXPOI)
Apollo Medicine, 2023 Anitha Saminathan +2 more
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