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Fragile X Mental Retardation Gene (FMR1): Genetic Complexity and Phenotype Variation

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The Fragile X Mental Retardation 1 Gene (FMR1) is associated with neurologic and ovarian disorders in humans. The FMR1 gene is well-known as the cause of Fragile X Syndrome (FXS), which is the most common heritable form of mental retardation in males. FXS is a trinucleotide disorder with x-linked autosomal ...

The Fragile X Mental Retardation 1 Gene (FMR1) is associated with neurologic and ovarian disorders in humans. The FMR1 gene is well-known as the cause of Fragile X Syndrome (FXS), which is the most common heritable form of mental retardation in males. FXS is a trinucleotide disorder with x-linked autosomal recessive inheritance, albeit with incomplete penetrance. While the normal number of CGG repeats in this gene is less than 45, individuals with FXS have an expansion of over 200 repeats. Men with 55-199 CGG repeats are at increased risk of fragile X-associated tremor/ataxia syndrome (FXTAS), and there are case reports of women and men with FXTAS and fewer CGG repeats. Women with 55-199 repeats, and potentially women with fewer repeats, have an increased risk of primary ovarian insufficiency (early ovarian aging that presents clinically as an early menopause or infertility). Taking advantage of the open access and interactive platform of Frontiers in Genetics, we would like to bring together high impact research studies and novel insights on this complex gene and the myriad of related phenotypes. Our aim is to facilitate and stimulate discussion, and improve our understanding of the cause and implications of these disorders. We welcome submissions using humans, animal models or basic science techniques. We encourage submissions of all article types including Original Research, Methods, Hypothesis & Theory, Clinical study, Reviews and Perspectives.


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