Hagerman RJ, Protic D, Rajaratnam A, Salcedo-Arellano MJ, Aydin EY, Schneider A. Fragile X-associated neuropsychiatric disorders (FXAND). Front Psych. 2018;9:564.
Berry-Kravis E, Abrams L, Coffey SM, Hall DA, Greco C, Gane LW, et al. Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Movement disorders: official journal of the Movement Disorder Society. 2007;22(14):2018–30.
Hagerman RJ, Hagerman P. Fragile X-associated tremor/ataxia syndrome—features, mechanisms and management. Nat Rev Neurol. 2016;12(7):403–12.
Article CAS PubMed Google Scholar
Jacquemont S, Hagerman RJ, Leehey M, Grigsby J, Zhang L, Brunberg JA, et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Human Genetics. 2003;72(4):869–78.
Allen EG, Charen K, Hipp HS, Shubeck L, Amin A, He W, et al. Refining the risk for fragile X–associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size. Genet Med. 2021;23(9):1648–55.
Article CAS PubMed PubMed Central Google Scholar
Allen E, Sullivan A, Marcus M, Small C, Dominguez C, Epstein M, et al. Examination of reproductive aging milestones among women who carry the FMR1 premutation. Hum Reprod. 2007;22(8):2142–52.
Article CAS PubMed Google Scholar
Man L, Lustgarten Guahmich N, Vyas N, Tsai S, Arazi L, Lilienthal D, et al. Ovarian reserve disorders, can we prevent them? A review. Int J Mol Sci. 2022;23(23):15426.
Article CAS PubMed PubMed Central Google Scholar
Sherman SL. Premature ovarian failure in the fragile X syndrome. Am J Med Genet. 2000;97(3):189–94.
Article CAS PubMed Google Scholar
Allen EG, Charen K, Hipp HS, Shubeck L, Amin A, He W, et al. Clustering of comorbid conditions among women who carry an FMR1 premutation. Genet Med. 2020;22(4):758–66.
Article PubMed PubMed Central Google Scholar
Tassone F, Protic D, Allen EG, Archibald AD, Baud A, Brown TW, et al. Insight and recommendations for fragile X-premutation-associated conditions from the fifth international conference on FMR1 premutation. Cells. 2023;12(18):2330.
Article PubMed PubMed Central Google Scholar
Winarni TI, Chonchaiya W, Sumekar TA, Ashwood P, Morales GM, Tassone F, et al. Immune-mediated disorders among women carriers of fragile X premutation alleles. Am J Med Genet A. 2012;158(10):2473–81.
Poteet B, Ali N, Bellcross C, Sherman SL, Espinel W, Hipp H, et al. The diagnostic experience of women with fragile X–associated primary ovarian insufficiency (FXPOI). J Assist Reprod Genet. 2023;40(1):179–90.
Maenner MJ, Baker MW, Broman KW, Tian J, Barnes JK, Atkins A, et al. FMR1 CGG expansions: prevalence and sex ratios. Am J Med Genet B Neuropsychiatr Genet. 2013;162(5):466–73.
Seltzer MM, Baker MW, Hong J, Maenner M, Greenberg J, Mandel D. Prevalence of CGG expansions of the FMR1 gene in a US population-based sample. Am J Med Genet B Neuropsychiatr Genet. 2012;159(5):589–97.
Article CAS PubMed Central Google Scholar
Tassone F, Iong KP, Tong T-H, Lo J, Gane LW, Berry-Kravis E, et al. FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States. Genome Med. 2013;4(12):1–13.
Hipp HS, Charen KH, Spencer JB, Allen EG, Sherman SL. Reproductive and gynecologic care of women with fragile X primary ovarian insufficiency (FXPOI). Menopause (New York, NY). 2016;23(9):993.
Chen M, Jiang H, Zhang C. Selected genetic factors associated with primary ovarian insufficiency. Int J Mol Sci. 2023;24(5):4423.
Article CAS PubMed PubMed Central Google Scholar
Rodrigues B, Sousa V, Yrigollen CM, Tassone F, Bejarano OV, Allen EG, et al. FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea. Reprod Biol Endocrinol. 2024;22:71. https://doi.org/10.1186/s12958-024-01227-5
Wittenberger MD, Hagerman RJ, Sherman SL, McConkie-Rosell A, Welt CK, Rebar RW, et al. The FMR1 premutation and reproduction. Fertil Steril. 2007;87(3):456–65.
Article CAS PubMed Google Scholar
Ennis S, Ward D, Murray A. Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers. Eur J Hum Genet. 2006;14(2):253–5.
Article CAS PubMed Google Scholar
Sullivan A, Marcus M, Epstein M, Allen E, Anido A, Paquin J, et al. Association of FMR1 repeat size with ovarian dysfunction. Hum Reprod. 2005;20(2):402–12.
Article CAS PubMed Google Scholar
Tejada M-I, García-Alegría E, Bilbao A, Martínez-Bouzas C, Beristain E, Poch M, et al. Analysis of the molecular parameters that could predict the risk of manifesting premature ovarian failure in female premutation carriers of fragile X syndrome. Menopause. 2008;15(5):945–9.
Hoyos LR, Thakur M. Fragile X premutation in women: recognizing the health challenges beyond primary ovarian insufficiency. J Assist Reprod Genet. 2017;34:315–23.
Hoffman GE, Le WW, Entezam A, Otsuka N, Tong Z-B, Nelson L, et al. Ovarian abnormalities in a mouse model of fragile X primary ovarian insufficiency. J Histochem Cytochem. 2012;60(6):439–56.
Article CAS PubMed PubMed Central Google Scholar
Gleicher N, Barad DH. The FMR1 gene as regulator of ovarian recruitment and ovarian reserve. Obstet Gynecol Surv. 2010;65(8):523–30.
Rosario R, Stewart HL, Choudhury NR, Michlewski G, Charlet‐Berguerand N, Anderson RA. Evidence for a fragile X messenger ribonucleoprotein 1 (FMR1) mRNA gain-of-function toxicity mechanism contributing to the pathogenesis of fragile X-associated premature ovarian insufficiency. FASEB J. 2022;36(11):e22612. https://doi.org/10.1096/fj.202200468RR
Pastore LM, Johnson J. The FMR1 gene, infertility, and reproductive decision-making: a review. Front Genet. 2014;5:97655.
Kerr JB, Myers M, Anderson RA. The dynamics of the primordial follicle reserve. Reproduction. 2013;146(6):R205–15.
Article CAS PubMed Google Scholar
Hung C-C, Lee C-N, Wang Y-C, Chen C-L, Lin T-K, Su Y-N, et al. Fragile X syndrome carrier screening in pregnant women in Chinese Han population. Sci Rep. 2019;9(1):15456.
Article PubMed PubMed Central Google Scholar
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):15–20.
Han S-H, Heo Y-A, Yang Y-H, Kim Y-J, Cho H-I, Lee K-R. Prenatal population screening for fragile X carrier and the prevalence of premutation carriers in. Korea J Genetic Med. 2012;9(2):73–7.
Meraj N, Yasin M, Rehman ZU, Tahir H, Jadoon H, Khan N, et al. Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation. BMC Womens Health. 2022;22(1):57.
Article CAS PubMed PubMed Central Google Scholar
Utine GE, Şimşek-Kiper PÖ, Akgün-Doğan Ö, Ürel-Demir G, Alanay Y, Aktaş D, et al. Fragile X-associated premature ovarian failure in a large Turkish cohort: findings of Hacettepe Fragile X Registry. Eur J Obstetrics & Gynecol Reprod Biol. 2018;221:76–80.
Merino S, Ibarluzea N, Maortua H, Prieto B, Rouco I, López-Aríztegui M-A, et al. Associated clinical disorders diagnosed by medical specialists in 188 FMR1 premutation carriers found in the last 25 years in the spanish basque country: a retrospective study. Genes. 2016;7(10):90.
Article PubMed PubMed Central Google Scholar
Berkenstadt M, Ries-Levavi L, Cuckle H, Peleg L, Barkai G. Preconceptional and prenatal screening for fragile X syndrome: experience with 40 000 tests. Prenatal Diagnosis: Published in Affiliation with the Int Soc Prenatal Diagnosis. 2007;27(11):991–4.
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