{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T04:30:56Z","timestamp":1784867456631,"version":"3.55.0"},"reference-count":56,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,8,12]],"date-time":"2020-08-12T00:00:00Z","timestamp":1597190400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2020,8,12]],"date-time":"2020-08-12T00:00:00Z","timestamp":1597190400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Basic Research Program of China","doi-asserted-by":"publisher","award":["2018YFC1002105"],"award-info":[{"award-number":["2018YFC1002105"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"name":"CAMS Innovation Fund for Medical Sciences","award":["2017-I2M-1-002"],"award-info":[{"award-number":["2017-I2M-1-002"]}]},{"DOI":"10.13039\/100007452","name":"Wu Jieping Medical Foundation","doi-asserted-by":"publisher","award":["320.6750.16183"],"award-info":[{"award-number":["320.6750.16183"]}],"id":[{"id":"10.13039\/100007452","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Reprod Biol Endocrinol"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n<jats:title>Background<\/jats:title>\n<jats:p>Previous studies have shown that there is an association between <jats:italic>FMR1<\/jats:italic> CGG repeats and ovarian dysfunction. The aim of this study is to assess the association between the number of CGG repeats in <jats:italic>FMR1<\/jats:italic> in Chinese patients with premature ovarian insufficiency (POI) and diminished ovarian reserve (DOR).<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Methods<\/jats:title>\n<jats:p>This is a cross-sectional, case-control study, which enrolled 124 patients with POI, 57 patients with DOR and 111 normal menopausal controls. The demographic details along with other clinical data were recorded. The <jats:italic>FMR1<\/jats:italic> CGG repeats were analyzed by polymerase chain reaction and microfluidic capillary electrophoresis.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Results<\/jats:title>\n<jats:p>We could detect two premutation carriers in the POI group (1.6%) and one in the control group (0.9%). No premutation carriers were identified in the DOR group. The frequency of <jats:italic>FMR1<\/jats:italic> premutations was not different between POI or DOR and controls. The most common CGG repeat was 29 and 30, and the repeat length for allele 2 had a secondary peak around 36\u201339 repeats. The CGG repeats were divided into groups of five consecutive values, and the distribution of allele 1 in the POI group was different from that in the control group (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001). No statistically significant differences were found for allele 1 between DOR group vs. controls, and for allele 2 between three groups (<jats:italic>P<\/jats:italic>\u2009&gt;\u20090.05).<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Conclusions<\/jats:title>\n<jats:p>The study shows that the frequency of <jats:italic>FMR1<\/jats:italic> premutations is relatively low (1.6%) in Chinese women with POI. The distribution of allele 1 CGG repeat in patients with POI showed difference from that in healthy women.<\/jats:p>\n<\/jats:sec>","DOI":"10.1186\/s12958-020-00645-5","type":"journal-article","created":{"date-parts":[[2020,8,12]],"date-time":"2020-08-12T08:03:57Z","timestamp":1597219437000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["The significance of FMR1 CGG repeats in Chinese women with premature ovarian insufficiency and diminished ovarian reserve"],"prefix":"10.1186","volume":"18","author":[{"given":"Ruiyi","family":"Tang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9737-5957","authenticated-orcid":false,"given":"Qi","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,8,12]]},"reference":[{"issue":"7","key":"645_CR1","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1038\/gim.2013.61","volume":"15","author":"K Monaghan","year":"2013","unstructured":"Monaghan K, Lyon E, Spector E. ACMG standards and guidelines for fragile X testing: a revision to the disease-specific supplements to the standards and guidelines for clinical genetics Laboratories of the American College of medical genetics and genomics. Genet Med. 2013;15(7):575\u201386. https:\/\/doi.org\/10.1038\/gim.2013.61.","journal-title":"Genet Med"},{"issue":"3","key":"645_CR2","doi-asserted-by":"publisher","first-page":"e9","DOI":"10.1016\/j.fertnstert.2014.12.093","volume":"103","author":"Medicine ASfR","year":"2015","unstructured":"Medicine ASfR. Testing and interpreting measures of ovarian reserve: a committee opinion. Fertil Steril. 2015;103(3):e9\u2013e17. https:\/\/doi.org\/10.1016\/j.fertnstert.2014.12.093.","journal-title":"Fertil Steril"},{"key":"645_CR3","doi-asserted-by":"publisher","first-page":"290","DOI":"10.3389\/fnmol.2017.00290","volume":"10","author":"L Man","year":"2017","unstructured":"Man L, Lekovich J, Rosenwaks Z, Gerhardt J. Fragile X-associated diminished ovarian reserve and primary ovarian insufficiency from molecular mechanisms to clinical manifestations. Front Mol Neurosci. 2017;10:290. https:\/\/doi.org\/10.3389\/fnmol.2017.00290.","journal-title":"Front Mol Neurosci"},{"issue":"12","key":"645_CR4","doi-asserted-by":"publisher","first-page":"1709","DOI":"10.1007\/s10815-015-0595-y","volume":"32","author":"J Cohen","year":"2015","unstructured":"Cohen J, Chabbert-Buffet N, Darai E. Diminished ovarian reserve, premature ovarian failure, poor ovarian responder--a plea for universal definitions. J Assist Reprod Genet. 2015;32(12):1709\u201312. https:\/\/doi.org\/10.1007\/s10815-015-0595-y.","journal-title":"J Assist Reprod Genet"},{"issue":"2","key":"645_CR5","doi-asserted-by":"publisher","first-page":"464","DOI":"10.1016\/j.fertnstert.2008.07.007","volume":"92","author":"I Streuli","year":"2009","unstructured":"Streuli I, Fraisse T, Ibecheole V, Moix I, Morris MA, de Ziegler D. Intermediate and premutation FMR1 alleles in women with occult primary ovarian insufficiency. Fertil Steril. 2009;92(2):464\u201370. https:\/\/doi.org\/10.1016\/j.fertnstert.2008.07.007.","journal-title":"Fertil Steril"},{"issue":"2","key":"645_CR6","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1093\/humrep\/deh635","volume":"20","author":"AK Sullivan","year":"2005","unstructured":"Sullivan AK, Marcus M, Epstein MP, Allen EG, Anido AE, Paquin JJ, et al. Association of FMR1 repeat size with ovarian dysfunction. Hum Reprod. 2005;20(2):402\u201312. https:\/\/doi.org\/10.1093\/humrep\/deh635.","journal-title":"Hum Reprod"},{"key":"645_CR7","doi-asserted-by":"publisher","unstructured":"Pelosi E, Simonsick E, Forabosco A, Garcia-Ortiz JE, Schlessinger D. Dynamics of the Ovarian Reserve and Impact of Genetic and Epidemiological Factors on Age of Menopause1. Biol Reprod. 2015;92(5). https:\/\/doi.org\/10.1095\/biolreprod.114.127381.","DOI":"10.1095\/biolreprod.114.127381"},{"issue":"1","key":"645_CR8","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1038\/gim.2013.64","volume":"16","author":"A Murray","year":"2014","unstructured":"Murray A, Schoemaker M, Bennett C, Ennis S, Macpherson J, Jones M, et al. Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency. Genet Med. 2014;16(1):19\u201324.","journal-title":"Genet Med"},{"issue":"8","key":"645_CR9","doi-asserted-by":"publisher","first-page":"2077","DOI":"10.1093\/humrep\/der168","volume":"26","author":"C Karimov","year":"2011","unstructured":"Karimov C, Moragianni V, Cronister A, Srouji S, Petrozza J, Racowsky C, et al. Increased frequency of occult fragile X-associated primary ovarian insufficiency in infertile women with evidence of impaired ovarian function. Hum Reprod. 2011;26(8):2077\u201383.","journal-title":"Hum Reprod"},{"issue":"5","key":"645_CR10","doi-asserted-by":"publisher","first-page":"1335","DOI":"10.1093\/humrep\/deq058","volume":"25","author":"C Bennett","year":"2010","unstructured":"Bennett C, Conway G, Macpherson J, Jacobs P, Murray A. Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure. Hum Reprod. 2010;25(5):1335\u20138.","journal-title":"Hum Reprod"},{"issue":"7","key":"645_CR11","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1097\/GIM.0b013e31821705e5","volume":"13","author":"MA Spath","year":"2011","unstructured":"Spath MA, Feuth TB, Smits AP, Yntema HG, Braat DD, Thomas CM, et al. Predictors and risk model development for menopausal age in fragile X premutation carriers. Genet Med. 2011;13(7):643\u201350. https:\/\/doi.org\/10.1097\/GIM.0b013e31821705e5.","journal-title":"Genet Med"},{"issue":"5","key":"645_CR12","doi-asserted-by":"publisher","first-page":"1170","DOI":"10.1016\/j.fertnstert.2011.08.028","volume":"96","author":"B Ishizuka","year":"2011","unstructured":"Ishizuka B, Okamoto N, Hamada N, Sugishita Y, Saito J, Takahashi N, et al. Number of CGG repeats in the FMR1 gene of Japanese patients with primary ovarian insufficiency. Fertil Steril. 2011;96(5):1170\u20134. https:\/\/doi.org\/10.1016\/j.fertnstert.2011.08.028.","journal-title":"Fertil Steril"},{"issue":"4","key":"645_CR13","doi-asserted-by":"publisher","first-page":"952","DOI":"10.1093\/humrep\/dei432","volume":"21","author":"B Bodega","year":"2006","unstructured":"Bodega B, Bione S, Dalpr\u00e0 L, Toniolo D, Ornaghi F, Vegetti W, et al. Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. Hum Reprod. 2006;21(4):952\u20137.","journal-title":"Hum Reprod"},{"issue":"4","key":"645_CR14","doi-asserted-by":"publisher","first-page":"376","DOI":"10.1007\/s00439-005-1326-8","volume":"117","author":"KL Bretherick","year":"2005","unstructured":"Bretherick KL, Fluker MR, Robinson WP. FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. Hum Genet. 2005;117(4):376\u201382. https:\/\/doi.org\/10.1007\/s00439-005-1326-8.","journal-title":"Hum Genet"},{"issue":"9","key":"645_CR15","doi-asserted-by":"publisher","first-page":"1225","DOI":"10.1177\/1933719116632927","volume":"23","author":"L Pastore","year":"2016","unstructured":"Pastore L, Manichaikul A, Wang X, Finkelstein J. FMR1 CGG repeats: reference levels and race-ethnic variation in women with Normal fertility (study of Women's health across the nation). Reprod Sci. 2016;23(9):1225\u201333.","journal-title":"Reprod Sci"},{"issue":"3","key":"645_CR16","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1266\/ggs.88.211","volume":"88","author":"DP Genereux","year":"2013","unstructured":"Genereux DP, Laird CD. Why do fragile X carrier frequencies differ between Asian and non-Asian populations? Genes Genet Syst. 2013;88(3):211\u201324.","journal-title":"Genes Genet Syst"},{"issue":"2","key":"645_CR17","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1016\/j.rbmo.2016.11.001","volume":"34","author":"CL Lu","year":"2017","unstructured":"Lu CL, Li R, Chen XN, Xu YY, Yan LY, Yan J, et al. The 'normal' range of FMR1 triple CGG repeats may be associated with primary ovarian insufficiency in China. Reprod Biomed Online. 2017;34(2):175\u201380. https:\/\/doi.org\/10.1016\/j.rbmo.2016.11.001.","journal-title":"Reprod Biomed Online"},{"issue":"7","key":"645_CR18","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0103316","volume":"9","author":"T Guo","year":"2014","unstructured":"Guo T, Qin Y, Jiao X, Li G, Simpson J, Chen Z. FMR1 premutation is an uncommon explanation for premature ovarian failure in Han Chinese. PLoS One. 2014;9(7):e103316.","journal-title":"PLoS One"},{"issue":"3","key":"645_CR19","doi-asserted-by":"publisher","first-page":"382","DOI":"10.1016\/j.rbmo.2014.05.004","volume":"29","author":"Y Ye","year":"2014","unstructured":"Ye Y, Lan X, Cong J, Li N, Wu Y, Zhang M, et al. Analysis of CGG repeats in FMR1 in Chinese women with idiopathic premature ovarian failure. Reprod Biomed Online. 2014;29(3):382\u20137. https:\/\/doi.org\/10.1016\/j.rbmo.2014.05.004.","journal-title":"Reprod Biomed Online"},{"issue":"2","key":"645_CR20","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1080\/14647273.2016.1255356","volume":"20","author":"A Eslami","year":"2017","unstructured":"Eslami A, Farahmand K, Totonchi M, Madani T, Asadpour U, Zari Moradi S, et al. FMR1 premutation: not only important in premature ovarian failure but also in diminished ovarian reserve. Hum Fertil (Camb). 2017;20(2):120\u20135. https:\/\/doi.org\/10.1080\/14647273.2016.1255356.","journal-title":"Hum Fertil (Camb)"},{"issue":"6","key":"645_CR21","doi-asserted-by":"publisher","first-page":"768","DOI":"10.1016\/j.rbmo.2010.02.020","volume":"20","author":"N Gleicher","year":"2010","unstructured":"Gleicher N, Weghofer A, Barad DH. Ovarian reserve determinations suggest new function of FMR1 (fragile X gene) in regulating ovarian ageing. Reprod Biomed Online. 2010;20(6):768\u201375. https:\/\/doi.org\/10.1016\/j.rbmo.2010.02.020.","journal-title":"Reprod Biomed Online"},{"issue":"3","key":"645_CR22","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1016\/S1472-6483(10)60173-3","volume":"19","author":"N Gleicher","year":"2009","unstructured":"Gleicher N, Weghofer A, Oktay K, Barad D. Relevance of triple CGG repeats in the FMR1 gene to ovarian reserve. Reprod Biomed Online. 2009;19(3):385\u201390.","journal-title":"Reprod Biomed Online"},{"issue":"11","key":"645_CR23","doi-asserted-by":"publisher","first-page":"1226","DOI":"10.1177\/1933719112446074","volume":"19","author":"L Pastore","year":"2012","unstructured":"Pastore L, Young S, Baker V, Karns L, Williams C, Silverman L. Elevated prevalence of 35-44 FMR1 trinucleotide repeats in women with diminished ovarian reserve. Reprod Sci. 2012;19(11):1226\u201331.","journal-title":"Reprod Sci"},{"issue":"7","key":"645_CR24","doi-asserted-by":"publisher","first-page":"1585","DOI":"10.1093\/humrep\/deu095","volume":"29","author":"M Voorhuis","year":"2014","unstructured":"Voorhuis M, Onland-Moret NC, Janse F, Ploos van Amstel HK, Goverde AJ, Lambalk CB, et al. The significance of fragile X mental retardation gene 1 CGG repeat sizes in the normal and intermediate range in women with primary ovarian insufficiency. Hum Reprod. 2014;29(7):1585\u201393. https:\/\/doi.org\/10.1093\/humrep\/deu095.","journal-title":"Hum Reprod"},{"issue":"1","key":"645_CR25","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1016\/j.fertnstert.2016.09.032","volume":"107","author":"LM Pastore","year":"2017","unstructured":"Pastore LM, Young SL, Manichaikul A, Baker VL, Wang XQ, Finkelstein JS. Distribution of the FMR1 gene in females by race\/ethnicity: women with diminished ovarian reserve versus women with normal fertility (SWAN study). Fertil Steril. 2017;107(1):205\u201311.e1. https:\/\/doi.org\/10.1016\/j.fertnstert.2016.09.032.","journal-title":"Fertil Steril"},{"issue":"11","key":"645_CR26","doi-asserted-by":"publisher","first-page":"2686","DOI":"10.1093\/humrep\/dev220","volume":"30","author":"A Schufreider","year":"2015","unstructured":"Schufreider A, McQueen D, Lee S, Allon R, Uhler M, Davie J, et al. Diminished ovarian reserve is not observed in infertility patients with high normal CGG repeats on the fragile X mental retardation 1 (FMR1) gene. Hum Reprod. 2015;30(11):2686\u201392.","journal-title":"Hum Reprod"},{"issue":"5","key":"645_CR27","doi-asserted-by":"publisher","first-page":"374","DOI":"10.1038\/gim.2013.146","volume":"16","author":"C De Geyter","year":"2014","unstructured":"De Geyter C, M'Rabet N, De Geyter J, Zurcher S, Moffat R, Bosch N, et al. Similar prevalence of expanded CGG repeat lengths in the fragile X mental retardation I gene among infertile women and among women with proven fertility: a prospective study. Genet Med. 2014;16(5):374\u20138. https:\/\/doi.org\/10.1038\/gim.2013.146.","journal-title":"Genet Med"},{"issue":"7","key":"645_CR28","doi-asserted-by":"publisher","first-page":"1616","DOI":"10.1093\/humrep\/der092","volume":"26","author":"AP Ferraretti","year":"2011","unstructured":"Ferraretti AP, La Marca A, Fauser BCJM, Tarlatzis B, Nargund G, Gianaroli L. ESHRE consensus on the definition of 'poor response' to ovarian stimulation for in vitro fertilization: the Bologna criteria. Hum Reprod. 2011;26(7):1616\u201324. https:\/\/doi.org\/10.1093\/humrep\/der092.","journal-title":"Hum Reprod"},{"issue":"4","key":"645_CR29","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1080\/13697137.2018.1458833","volume":"21","author":"X Sun","year":"2018","unstructured":"Sun X, Luo M, Ma M, Tang R, Wang Y, Liu G, et al. Ovarian aging: an ongoing prospective community-based cohort study in middle-aged Chinese women. Climacteric. 2018;21(4):404\u201310. https:\/\/doi.org\/10.1080\/13697137.2018.1458833.","journal-title":"Climacteric."},{"key":"645_CR30","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1016\/j.cca.2016.02.027","volume":"456","author":"YK Kwok","year":"2016","unstructured":"Kwok YK, Wong KM, Lo FM, Kong GWS, Moore JK, Wu S, et al. Validation of a robust PCR-based assay for quantifying fragile X CGG repeats. Clin Chim Acta. 2016;456:137\u201343. https:\/\/doi.org\/10.1016\/j.cca.2016.02.027.","journal-title":"Clin Chim Acta"},{"issue":"2","key":"645_CR31","doi-asserted-by":"publisher","first-page":"496","DOI":"10.1093\/humrep\/des392","volume":"28","author":"M Voorhuis","year":"2013","unstructured":"Voorhuis M, Onland-Moret N, Fauser B, Ploos van Amstel H, van der Schouw Y, Broekmans F. The association of CGG repeats in the FMR1 gene and timing of natural menopause. Hum Reprod. 2013;28(2):496\u2013501.","journal-title":"Hum Reprod"},{"issue":"4","key":"645_CR32","first-page":"604","volume":"67","author":"CB Coulam","year":"1986","unstructured":"Coulam CB, Adamson SC, Annegers JF. Incidence of premature ovarian failure. Obstet Gynecol. 1986;67(4):604\u20136.","journal-title":"Obstet Gynecol"},{"issue":"4","key":"645_CR33","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1080\/13697137.2019.1574738","volume":"22","author":"S Golezar","year":"2019","unstructured":"Golezar S, Ramezani Tehrani F, Khazaei S, Ebadi A, Keshavarz Z. The global prevalence of primary ovarian insufficiency and early menopause: a meta-analysis. Climacteric. 2019;22(4):403\u201311. https:\/\/doi.org\/10.1080\/13697137.2019.1574738.","journal-title":"Climacteric"},{"issue":"3","key":"645_CR34","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1007\/s10815-016-0854-6","volume":"34","author":"LR Hoyos","year":"2017","unstructured":"Hoyos LR, Thakur M. Fragile X premutation in women: recognizing the health challenges beyond primary ovarian insufficiency. J Assist Reprod Genet. 2017;34(3):315\u201323. https:\/\/doi.org\/10.1007\/s10815-016-0854-6.","journal-title":"J Assist Reprod Genet"},{"issue":"4","key":"645_CR35","doi-asserted-by":"publisher","first-page":"1008","DOI":"10.1097\/AOG.0b013e3181fae884","volume":"116","author":"Genetics. ACoOaGCo","year":"2010","unstructured":"Genetics. ACoOaGCo. ACOG Committee Opinion No. 469: carrier screening for fragile X syndrome. Obstet Gynecol. 2010;116(4):1008\u201310. https:\/\/doi.org\/10.1097\/AOG.0b013e3181fae884.","journal-title":"Obstet Gynecol"},{"issue":"4","key":"645_CR36","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1093\/humupd\/dmn009","volume":"14","author":"Group TECW","year":"2008","unstructured":"Group TECW. Genetic aspects of female reproduction. Hum Reprod Update. 2008;14(4):293\u2013307. https:\/\/doi.org\/10.1093\/humupd\/dmn009.","journal-title":"Hum Reprod Update"},{"issue":"6","key":"645_CR37","doi-asserted-by":"publisher","first-page":"1255","DOI":"10.1007\/s00404-014-3145-4","volume":"289","author":"D Tosh","year":"2014","unstructured":"Tosh D, Rao KL, Rani HS, Deenadayal DA, Murty US, Grover P. Association between fragile X premutation and premature ovarian failure: a case-control study and meta-analysis. Arch Gynecol Obstet. 2014;289(6):1255\u201362. https:\/\/doi.org\/10.1007\/s00404-014-3145-4.","journal-title":"Arch Gynecol Obstet"},{"issue":"2","key":"645_CR38","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1016\/S1472-6483(10)60086-7","volume":"19","author":"S Chatterjee","year":"2009","unstructured":"Chatterjee S, Maitra A, Kadam S, Patel Z, Gokral J, Meherji P. CGG repeat sizing in the FMR1 gene in Indian women with premature ovarian failure. Reprod Biomed Online. 2009;19(2):281\u20136.","journal-title":"Reprod Biomed Online"},{"key":"645_CR39","doi-asserted-by":"publisher","unstructured":"Asadi R, Omrani MD, Ghaedi H, Mirfakhraie R, Azargashb E, Habibi M, et al. Premutations of FMR1 CGG repeats are not related to idiopathic premature ovarian failure in Iranian patients: a case control study. Gene. 2018. https:\/\/doi.org\/10.1016\/j.gene.2018.07.034.","DOI":"10.1016\/j.gene.2018.07.034"},{"issue":"1","key":"645_CR40","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1186\/s12881-019-0805-z","volume":"20","author":"Y Ma","year":"2019","unstructured":"Ma Y, Wei X, Pan H, Wang S, Wang X, Liu X, et al. The prevalence of CGG repeat expansion mutation in FMR1 gene in the northern Chinese women of reproductive age. BMC Med Genet. 2019;20(1):81. https:\/\/doi.org\/10.1186\/s12881-019-0805-z.","journal-title":"BMC Med Genet"},{"issue":"3","key":"645_CR41","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1002\/mgg3.128","volume":"3","author":"W Huang","year":"2015","unstructured":"Huang W, Xia Q, Luo S, He H, Zhu T, Du Q, et al. Distribution of fragile X mental retardation 1 CGG repeat and flanking haplotypes in a large Chinese population. Mol Genet Genomic Med. 2015;3(3):172\u201381. https:\/\/doi.org\/10.1002\/mgg3.128.","journal-title":"Mol Genet Genomic Med"},{"issue":"2","key":"645_CR42","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1111\/cge.12981","volume":"92","author":"CC Tzeng","year":"2017","unstructured":"Tzeng CC, Tsai LP, Chang YK, Hung YJ, Chang YY, Su YP, et al. A 15-year-long southern blotting analysis of FMR1 to detect female carriers and for prenatal diagnosis of fragile X syndrome in Taiwan. Clin Genet. 2017;92(2):217\u201320. https:\/\/doi.org\/10.1111\/cge.12981.","journal-title":"Clin Genet"},{"issue":"1","key":"645_CR43","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1177\/0969141313488364","volume":"20","author":"MJ Kim","year":"2013","unstructured":"Kim MJ, Kim DJ, Kim SY, Yang JH, Kim MH, Lee SW, et al. Fragile X carrier screening in Korean women of reproductive age. J Med Screen. 2013;20(1):15\u201320. https:\/\/doi.org\/10.1177\/0969141313488364.","journal-title":"J Med Screen"},{"issue":"1","key":"645_CR44","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1097\/GIM.0b013e3181fa9fad","volume":"13","author":"F Hantash","year":"2011","unstructured":"Hantash F, Goos D, Crossley B, Anderson B, Zhang K, Sun W, et al. FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor\/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States. Genet Med. 2011;13(1):39\u201345.","journal-title":"Genet Med"},{"issue":"5","key":"645_CR45","doi-asserted-by":"publisher","first-page":"502","DOI":"10.1016\/j.trsl.2015.06.014","volume":"166","author":"N Gleicher","year":"2015","unstructured":"Gleicher N, Yu Y, Himaya E, Barad DH, Weghofer A, Wu YG, et al. Early decline in functional ovarian reserve in young women with low (CGGn < 26) FMR1 gene alleles. Transl Res. 2015;166(5):502\u20137.e1\u20132. https:\/\/doi.org\/10.1016\/j.trsl.2015.06.014.","journal-title":"Transl Res"},{"issue":"1","key":"645_CR46","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1016\/j.gene.2013.03.032","volume":"521","author":"M Barasoain","year":"2013","unstructured":"Barasoain M, Barrenetxea G, Huerta I, Telez M, Carrillo A, Perez C, et al. Study of FMR1 gene association with ovarian dysfunction in a sample from the Basque Country. Gene. 2013;521(1):145\u20139. https:\/\/doi.org\/10.1016\/j.gene.2013.03.032.","journal-title":"Gene."},{"issue":"4","key":"645_CR47","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1016\/j.rbmo.2009.12.017","volume":"20","author":"N Gleicher","year":"2010","unstructured":"Gleicher N, Weghofer A, Barad DH. Effects of race\/ethnicity on triple CGG counts in the FMR1 gene in infertile women and egg donors. Reprod Biomed Online. 2010;20(4):485\u201391. https:\/\/doi.org\/10.1016\/j.rbmo.2009.12.017.","journal-title":"Reprod Biomed Online"},{"issue":"5","key":"645_CR48","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1007\/BF00216445","volume":"92","author":"T Arinami","year":"1993","unstructured":"Arinami T, Asano M, Kobayashi K, Yanagi H, Hamaguchi H. Data on the CGG repeat at the fragile X site in the non-retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate. Hum Genet. 1993;92(5):431\u20136.","journal-title":"Hum Genet"},{"issue":"8","key":"645_CR49","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0105121","volume":"9","author":"S Elizur","year":"2014","unstructured":"Elizur S, Lebovitz O, Derech-Haim S, Dratviman-Storobinsky O, Feldman B, Dor J, et al. Elevated levels of FMR1 mRNA in granulosa cells are associated with low ovarian reserve in FMR1 premutation carriers. PLoS One. 2014;9(8):e105121.","journal-title":"PLoS One"},{"issue":"12","key":"645_CR50","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0209309","volume":"13","author":"Q Wang","year":"2018","unstructured":"Wang Q, Barad DH, Darmon SK, Kushnir VA, Wu YG, Lazzaroni-Tealdi E, et al. Reduced RNA expression of the FMR1 gene in women with low (CGGn<26) repeats. PLoS One. 2018;13(12):e0209309. https:\/\/doi.org\/10.1371\/journal.pone.0209309.","journal-title":"PLoS One"},{"issue":"6","key":"645_CR51","doi-asserted-by":"publisher","first-page":"384","DOI":"10.1093\/molehr\/gaw023","volume":"22","author":"C Conca Dioguardi","year":"2016","unstructured":"Conca Dioguardi C, Uslu B, Haynes M, Kurus M, Gul M, Miao DQ, et al. Granulosa cell and oocyte mitochondrial abnormalities in a mouse model of fragile X primary ovarian insufficiency. Mol Hum Reprod. 2016;22(6):384\u201396. https:\/\/doi.org\/10.1093\/molehr\/gaw023.","journal-title":"Mol Hum Reprod"},{"issue":"7429","key":"645_CR52","doi-asserted-by":"publisher","first-page":"382","DOI":"10.1038\/nature11737","volume":"492","author":"M Ascano","year":"2012","unstructured":"Ascano M, Mukherjee N, Bandaru P, Miller JB, Nusbaum JD, Corcoran DL, et al. FMRP targets distinct mRNA sequence elements to regulate protein expression. Nature. 2012;492(7429):382\u20136. https:\/\/doi.org\/10.1038\/nature11737.","journal-title":"Nature."},{"issue":"1","key":"645_CR53","doi-asserted-by":"publisher","first-page":"588","DOI":"10.1038\/s41598-017-18598-y","volume":"8","author":"E Mok-Lin","year":"2018","unstructured":"Mok-Lin E, Ascano M Jr, Serganov A, Rosenwaks Z, Tuschl T, Williams Z. Premature recruitment of oocyte pool and increased mTOR activity in Fmr1 knockout mice and reversal of phenotype with rapamycin. Sci Rep. 2018;8(1):588. https:\/\/doi.org\/10.1038\/s41598-017-18598-y.","journal-title":"Sci Rep"},{"issue":"23","key":"645_CR54","doi-asserted-by":"publisher","first-page":"5039","DOI":"10.1093\/hmg\/dds348","volume":"21","author":"C Lu","year":"2012","unstructured":"Lu C, Lin L, Tan H, Wu H, Sherman S, Gao F, et al. Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice. Hum Mol Genet. 2012;21(23):5039\u201347.","journal-title":"Hum Mol Genet"},{"issue":"1","key":"645_CR55","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1186\/1866-1955-6-26","volume":"6","author":"SL Sherman","year":"2014","unstructured":"Sherman SL, Curnow EC, Easley CA, Jin P, Hukema RK, Tejada MI, et al. Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI). J Neurodev Disord. 2014;6(1):26. https:\/\/doi.org\/10.1186\/1866-1955-6-26.","journal-title":"J Neurodev Disord"},{"issue":"5","key":"645_CR56","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1016\/j.rbmo.2017.07.016","volume":"35","author":"J Rehnitz","year":"2017","unstructured":"Rehnitz J, Alcoba DD, Brum IS, Hinderhofer K, Youness B, Strowitzki T, et al. FMR1 and AKT\/mTOR signalling pathways: potential functional interactions controlling folliculogenesis in human granulosa cells. Reprod Biomed Online. 2017;35(5):485\u201393. https:\/\/doi.org\/10.1016\/j.rbmo.2017.07.016.","journal-title":"Reprod Biomed Online"}],"container-title":["Reproductive Biology and Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12958-020-00645-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12958-020-00645-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12958-020-00645-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,11]],"date-time":"2021-08-11T23:48:31Z","timestamp":1628725711000},"score":1,"resource":{"primary":{"URL":"https:\/\/rbej.biomedcentral.com\/articles\/10.1186\/s12958-020-00645-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,12]]},"references-count":56,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["645"],"URL":"https:\/\/doi.org\/10.1186\/s12958-020-00645-5","relation":{},"ISSN":["1477-7827"],"issn-type":[{"value":"1477-7827","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,8,12]]},"assertion":[{"value":"13 May 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 August 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 August 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional research committee of Peking Union Medical College Hospital (No. JS-1604). Informed consent was obtained in accordance with the institutional guidelines.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"All the patients signed a consent form prior recruited for this study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"82"}}