000079158 001__ 79158
000079158 005__ 20200117221654.0
000079158 0247_ $$2doi$$a10.1111/cge.13257
000079158 0248_ $$2sideral$$a107108
000079158 037__ $$aART-2018-107108
000079158 041__ $$aeng
000079158 100__ $$aAlvarez-Mora, M.I.
000079158 245__ $$aClinical implication of FMR1 intermediate alleles in a Spanish population
000079158 260__ $$c2018
000079158 5060_ $$aAccess copy available to the general public$$fUnrestricted
000079158 5203_ $$aFMR1 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. FMR1 premutation alleles are also associated with a variety of disorders, including psychiatric, developmental, and neurological problems. However, there is a major concern regarding clinical implications of smaller CGG expansions known as intermediate alleles (IA) or gray zone alleles (45-54 CGG). Although several studies have hypothesized that IA may be involved in the etiology of FMR1 premutation associated phenotypes, this association still remains unclear. The aim of this study was to provide new data on the clinical implications of IA. We reviewed a total of 17 011 individuals: 1142 with primary ovarian insufficiency, 478 with movement disorders, 14 006 with neurodevelopmental disorders and 1385 controls. Similar IA frequencies were detected in all the cases and controls (cases 1.20% vs controls 1.39%, P =.427). When comparing the allelic frequencies of IA = 50CGGs, a greater, albeit not statistically significant, number of alleles were detected in all the cohorts of patients. Therefore, IA below 50 CGGs should not be considered as risk factors for FMR1 premutation-associated phenotypes, at least in our population. However, the clinical implication of IA = 50CGGs remains to be further elucidated.
000079158 536__ $$9info:eu-repo/grantAgreement/ES/FEDER/Una manera de hacer Europa$$9info:eu-repo/grantAgreement/ES/ISCIII/PI17-01067
000079158 540__ $$9info:eu-repo/semantics/openAccess$$aAll rights reserved$$uhttp://www.europeana.eu/rights/rr-f/
000079158 590__ $$a4.104$$b2018
000079158 591__ $$aGENETICS & HEREDITY$$b39 / 174 = 0.224$$c2018$$dQ1$$eT1
000079158 592__ $$a1.679$$b2018
000079158 593__ $$aGenetics (clinical)$$c2018$$dQ1
000079158 593__ $$aGenetics$$c2018$$dQ1
000079158 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/acceptedVersion
000079158 700__ $$aMadrigal, I.
000079158 700__ $$aMartinez, F.
000079158 700__ $$aTejada, M.I.
000079158 700__ $$0(orcid)0000-0002-7615-2399$$aIzquierdo-Alvarez, S.
000079158 700__ $$aSanchez-Villar de Saz, P.
000079158 700__ $$aCaro-Llopis, A.
000079158 700__ $$aVillate, O.
000079158 700__ $$aRodríguez-Santiago, B.
000079158 700__ $$aPérez Jurado, L.A.
000079158 700__ $$aRodriguez-Revenga, L.
000079158 700__ $$aMilà, M.
000079158 773__ $$g94, 1 (2018), 153-158$$pClin. genet.$$tClinical Genetics$$x0009-9163
000079158 8564_ $$s220433$$uhttps://zaguan.unizar.es/record/79158/files/texto_completo.pdf$$yPostprint
000079158 8564_ $$s72273$$uhttps://zaguan.unizar.es/record/79158/files/texto_completo.jpg?subformat=icon$$xicon$$yPostprint
000079158 909CO $$ooai:zaguan.unizar.es:79158$$particulos$$pdriver
000079158 951__ $$a2020-01-17-22:10:29
000079158 980__ $$aARTICLE