{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T16:35:53Z","timestamp":1793723753212,"version":"4.6.1"},"reference-count":57,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T00:00:00Z","timestamp":1722470400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Fundaci\u00f3n Merck Salud","award":["19-FE-011"],"award-info":[{"award-number":["19-FE-011"]}]},{"name":"Fundaci\u00f3n Merck Salud","award":["PI21\/01085"],"award-info":[{"award-number":["PI21\/01085"]}]},{"name":"Instituto de Salud Carlos III (ISCIII)","award":["19-FE-011"],"award-info":[{"award-number":["19-FE-011"]}]},{"name":"Instituto de Salud Carlos III (ISCIII)","award":["PI21\/01085"],"award-info":[{"award-number":["PI21\/01085"]}]},{"name":"European Union","award":["19-FE-011"],"award-info":[{"award-number":["19-FE-011"]}]},{"name":"European Union","award":["PI21\/01085"],"award-info":[{"award-number":["PI21\/01085"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>The relationship between premature ovarian insufficiency (FXPOI) and premutation in the FMR1 gene is well established. In recent years, though, a potential relationship between the latter and a low ovarian reserve has been suggested. To explore it, we conducted a retrospective study in an IVF program at a university tertiary referral center in Barcelona (Spain). Data were obtained retrospectively from a total of 385 women referred for FMR1 gene testing at our institution from January 2018 to December 2021. We compared the prevalence of FMR1 gene premutation between 93 of them, younger than 35 years, with a diminished ovarian reserve (DOR), characterized by levels of anti-Mullerian hormone &lt; 1.1 ng\/mL and antral follicle count &lt; 5; and 132 egg donors screened by protocol that served as the controls. We found a higher prevalence of FMR1 premutation in the DOR group (seven patients (7.69%)) than in the control group (one patient (1.32%)), Fisher-exact test p-value = 0.012). We concluded that compared with the general population represented by young egg donors, the prevalence of FMR1 gene premutation is higher in young patients with a diminished ovarian reserve. Although these findings warrant further prospective validation in a larger cohort of patients within DOR, they suggest that, in clinical practice, FMR1 premutation should be determined in infertile young patients with DOR in order to give them adequate genetic counselling.<\/jats:p>","DOI":"10.3390\/genes15081008","type":"journal-article","created":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T08:14:46Z","timestamp":1722500086000},"page":"1008","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Prevalence of the FMR1 Gene Premutation in Young Women with a Diminished Ovarian Reserve Included in an IVF Program: Implications for Clinical Practice"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9459-4062","authenticated-orcid":false,"given":"In\u00e9s","family":"Agust\u00ed","sequence":"first","affiliation":[{"name":"Assisted Human Reproduction Unit, Gynecology Service, Clinic Institute of Gynecology, Obstetrics, and Neonatology (ICGON), Hospital Cl\u00ednic Barcelona, 08036 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"M\u00e9ndez","sequence":"additional","affiliation":[{"name":"Assisted Human Reproduction Unit, Gynecology Service, Clinic Institute of Gynecology, Obstetrics, and Neonatology (ICGON), Hospital Cl\u00ednic Barcelona, 08036 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3838-7920","authenticated-orcid":false,"given":"Aina","family":"Borr\u00e1s","sequence":"additional","affiliation":[{"name":"Assisted Human Reproduction Unit, Gynecology Service, Clinic Institute of Gynecology, Obstetrics, and Neonatology (ICGON), Hospital Cl\u00ednic Barcelona, 08036 Barcelona, Spain"},{"name":"Fundacio Clinic de Recerca Biomedique-Institut d\u2019Investigacions Biom\u00e8diques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9733-5338","authenticated-orcid":false,"given":"Anna","family":"Goday","sequence":"additional","affiliation":[{"name":"Assisted Human Reproduction Unit, Gynecology Service, Clinic Institute of Gynecology, Obstetrics, and Neonatology (ICGON), Hospital Cl\u00ednic Barcelona, 08036 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4413-6714","authenticated-orcid":false,"given":"Marta","family":"Guimer\u00e0","sequence":"additional","affiliation":[{"name":"Assisted Human Reproduction Unit, Gynecology Service, Clinic Institute of Gynecology, Obstetrics, and Neonatology (ICGON), Hospital Cl\u00ednic Barcelona, 08036 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1277-8659","authenticated-orcid":false,"given":"Sara","family":"Peralta","sequence":"additional","affiliation":[{"name":"Assisted Human Reproduction Unit, Gynecology Service, Clinic Institute of Gynecology, Obstetrics, and Neonatology (ICGON), Hospital Cl\u00ednic Barcelona, 08036 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Ribera","sequence":"additional","affiliation":[{"name":"Assisted Human Reproduction Unit, Gynecology Service, Clinic Institute of Gynecology, Obstetrics, and Neonatology (ICGON), Hospital Cl\u00ednic Barcelona, 08036 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6332-3929","authenticated-orcid":false,"given":"Laia","family":"Rodriguez-Revenga","sequence":"additional","affiliation":[{"name":"Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona\u2014Institut d\u2019Investigacions Biom\u00e8diques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain"},{"name":"CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dolors","family":"Manau","sequence":"additional","affiliation":[{"name":"Assisted Human Reproduction Unit, Gynecology Service, Clinic Institute of Gynecology, Obstetrics, and Neonatology (ICGON), Hospital Cl\u00ednic Barcelona, 08036 Barcelona, Spain"},{"name":"Fundacio Clinic de Recerca Biomedique-Institut d\u2019Investigacions Biom\u00e8diques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,8,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1002\/(SICI)1096-8628(19960712)64:1<196::AID-AJMG35>3.0.CO;2-G","article-title":"Prevalence of fragile X syndrome","volume":"64","author":"Turner","year":"1996","journal-title":"Am. 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