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Fragile X mental retardation type 1 (<jats:italic><jats:styled-content style=\"fixed-case\">FMR1<\/jats:styled-content><\/jats:italic>) gene premutation is the first single\u2010gene cause of primary ovarian failure (Fragile X\u2010associated primary ovarian insufficiency [FXPOI]) and one of the most common causes of ataxia (fragile X\u2010associated tremor\/ataxia syndrome [<jats:styled-content style=\"fixed-case\">FXTAS<\/jats:styled-content>]), 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. Clinical involvement in men and women carrying the <jats:italic><jats:styled-content style=\"fixed-case\">FMR1<\/jats:styled-content><\/jats:italic> premutation currently constitutes a real health problem in the society that should be taken into account. It is important to highlight that while in <jats:styled-content style=\"fixed-case\">FXS<\/jats:styled-content> there is a loss\u2010of\u2010function of the <jats:italic><jats:styled-content style=\"fixed-case\">FMR1<\/jats:styled-content><\/jats:italic> gene, in premutation associated disorders there is a gain of <jats:italic><jats:styled-content style=\"fixed-case\">FMR1<\/jats:styled-content><\/jats:italic> <jats:styled-content style=\"fixed-case\">mRNA<\/jats:styled-content> function. To date, the tremendous progress achieved in the understanding of the pathophysiology of <jats:styled-content style=\"fixed-case\">FXS<\/jats:styled-content>, has led to the development of several targeted therapies aimed at preventing or improving the neurological manifestations of the disease. This review is an update of the diseases associated with the <jats:italic><jats:styled-content style=\"fixed-case\">FMR1<\/jats:styled-content><\/jats:italic> gene.<\/jats:p>","DOI":"10.1111\/cge.13075","type":"journal-article","created":{"date-parts":[[2017,6,15]],"date-time":"2017-06-15T11:35:31Z","timestamp":1497526531000},"page":"197-205","source":"Crossref","is-referenced-by-count":137,"title":["Fragile X syndrome: An overview and update of the <i><scp>FMR1<\/scp><\/i> gene"],"prefix":"10.1111","volume":"93","author":[{"given":"M.","family":"Mila","sequence":"first","affiliation":[{"name":"Biochemistry and Molecular Genetics Department, Hospital Clinic Institut d'Investigacions Biom\u00e8diques August Pi i Sunyer (IDIBAPS)  Barcelona Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) Instituto de Salud Carlos III  Madrid 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