DONG Yan. Research progress on the correlation between premature ovarian failure and abnormal expansion repeat of CGG of the fragile X mental retardation 1[J]. Journal of Clinical Medicine in Practice, 2021, 25(4): 121-124. DOI: 10.7619/jcmp.20201732
Citation: DONG Yan. Research progress on the correlation between premature ovarian failure and abnormal expansion repeat of CGG of the fragile X mental retardation 1[J]. Journal of Clinical Medicine in Practice, 2021, 25(4): 121-124. DOI: 10.7619/jcmp.20201732

Research progress on the correlation between premature ovarian failure and abnormal expansion repeat of CGG of the fragile X mental retardation 1

More Information
  • Received Date: December 19, 2020
  • Available Online: March 14, 2021
  • Published Date: February 27, 2021
  • Fragile X syndrome (FXS) is often manifested as a multisystem disorder such as inherited intellectual disabilities and autism. Fragile X mental retardation 1 (FMR1) is an important genetic factor associated with premature ovarian failure (POF). Female with POF still have a certain probability of getting pregnant, and carriers with abnormal expansion repeat of CGG of FMR1 gene more likely occur. It leads to changes in reproductive function and an increased incidence of unexplained recurrent miscarriages in patients with POF. This paper reviewed the studies on premature ovarian failure and abnormal expansion repeat of CGG of FMR1, and provided a theoretical basis for genetic counseling and fertility guidance, so as to reduce birth defects.
  • [1]
    徐丛剑, 华克勤. 实用妇产科学[M]. 4版. 北京: 人民卫生出版社, 2018: 538-539.
    [2]
    张茜蒻, 秦莹莹, 陈子江. 卵巢早衰遗传学病因研究进展[J]. 中国实用妇科与产科杂志, 2015, 31(8): 768-773. https://www.cnki.com.cn/Article/CJFDTOTAL-ZGSF201508026.htm
    [3]
    LOZANO R, ROSERO C A, HAGERMAN R J. Fragile X spectrum disorders[J]. Intractable Rare Dis Res, 2014, 3(4): 134-146. doi: 10.5582/irdr.2014.01022
    [4]
    BRETHERICK K L, FLUKER M R, ROBINSON W P. FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure[J]. Hum Genet, 2005, 117(4): 376-382. doi: 10.1007/s00439-005-1326-8
    [5]
    VERKERK A J M H, PIERETTI M, SUTCLIFFE J S, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome[J]. Cell, 1991, 65(5): 905-914. doi: 10.1016/0092-8674(91)90397-H
    [6]
    GLEICHER N, BARAD D H. The FMR1 gene as regulator of ovarian recruitment and ovarian reserve[J]. Obstet Gynecol Surv, 2010, 65(8): 523-530. doi: 10.1097/OGX.0b013e3181f8bdda
    [7]
    KRONQUIST K E, SHERMAN S L, SPECTOR E B. Clinical significance of tri-nucleotide repeats in Fragile X testing: a clarification of American College of Medical Genetics guidelines[J]. Genet Med, 2008, 10(11): 845-847. http://onlinelibrary.wiley.com/resolve/reference/PMED?id=18941415
    [8]
    WITTENBERGER M D, HAGERMAN R J, SHERMAN S L, et al. The FMR1 premutation and reproduction[J]. Fertil Steril, 2007, 87(3): 456-465. doi: 10.1016/j.fertnstert.2006.09.004
    [9]
    JOHNSON J P, NELSON R, SCHWARTZ C E. A family with mental retardation, variable macrocephaly and macro-orchidism, and linkage to Xq12-Q21[J]. J Med Genet, 1998, 35(12): 1026-1030. doi: 10.1136/jmg.35.12.1026
    [10]
    DAVIS C J, DAVISON R M, PAYNE N N, et al. Female sex preponderance for idiopathic familial premature ovarian failure suggests an X chromosome defect: opinion[J]. Hum Reprod, 2000, 15(11): 2418-2422. doi: 10.1093/humrep/15.11.2418
    [11]
    CONWAY G S, HETTIARACHCHI S, MURRAY A, et al. Fragile X premutations in familial premature ovarian failure[J]. Lancet, 1995, 346(8970): 309-310. doi: 10.1016/S0140-6736(95)92194-X
    [12]
    MURRAY A, WEBB J, GRIMLEY S, et al. Studies of FRAXA and FRAXE in women with premature ovarian failure[J]. J Med Genet, 1998, 35(8): 637-640. doi: 10.1136/jmg.35.8.637
    [13]
    SHERMAN S L. Premature ovarian failure in the fragile X syndrome[J]. Am J Med Genet, 2000, 97(3): 189-194. doi: 10.1002/1096-8628(200023)97:3<189::AID-AJMG1036>3.0.CO;2-J
    [14]
    CONWAY GS, PAYNE NN, WEBB J, et al. Fragile X premutation in familial. premature ovarian failure[J]. Lancet, 1995, 346(8970): 309-310. doi: 10.1016/S0140-6736(95)92194-X
    [15]
    BARASOAIN M, BARRENETXEA G, HUERTA I, et al. Study of FMR1 gene association with ovarian dysfunction in a sample from the Basque Country[J]. Gene, 2013, 521(1): 145-149. doi: 10.1016/j.gene.2013.03.032
    [16]
    ISHIZUKA B, OKAMOTO N, HAMADA N, et al. Number of CGG repeats in the FMR1 gene of Japanese patients with primary ovarian insufficiency[J]. Fertil Steril, 2011, 96(5): 1170-1174. doi: 10.1016/j.fertnstert.2011.08.028
    [17]
    SULLIVAN A K, MARCUS M, EPSTEIN M P, et al. Association of FMR1 repeat size with ovarian dysfunction[J]. Hum Reprod, 2005, 20(2): 402-412. doi: 10.1093/humrep/deh635
    [18]
    VOORHUIS M, ONLAND-MORET N C, JANSE F, 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[J]. Hum Reprod, 2014, 29(7): 1585-1593. doi: 10.1093/humrep/deu095
    [19]
    BODEGA B, BIONE S, DALPRÀ L, et al. Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation[J]. Hum Reprod, 2006, 21(4): 952-957. doi: 10.1093/humrep/dei432
    [20]
    CHATTERJEE S, MAITRA A, KADAM S, et al. CGG repeat sizing in the FMR1 gene in Indian women with premature ovarian failure[J]. Reprod Biomed Online, 2009, 19(2): 281-286. doi: 10.1016/S1472-6483(10)60086-7
    [21]
    郭婷, 陈子江. FMR1基因突变与卵巢储备功能相关性的研究进展[J]. 中华妇产科杂志, 2012, 47(3): 229-231. doi: 10.3760/cma.j.issn.0529-567x.2012.03.017
    [22]
    WANG X H, SONG X H, WANG Y L, et al. Expanded alleles of the FMR1 gene are related to unexplained recurrent miscarriages[J]. Biosci Rep, 2017, 37(6): BSR20170856. doi: 10.1042/BSR20170856
    [23]
    冯旺琴, 陈素文, 武淑英, 等. FMR1基因CGG重复序列多态性与不明原因早期自然流产的相关性研究[J]. 生殖医学杂志, 2019, 28(1): 12-17. https://www.cnki.com.cn/Article/CJFDTOTAL-SZYX201901003.htm
    [24]
    SULLIVAN S D, WELT C, SHERMAN S. FMR1 and the continuum of primary ovarian insufficiency[J]. Semin Reprod Med, 2011, 29(4): 299-307. doi: 10.1055/s-0031-1280915
    [25]
    GLEICHER N, WEGHOFER A, LEE I H, et al. FMR1 genotype with autoimmunity-associated polycystic ovary-like phenotype and decreased pregnancy chance[J]. PLoS One, 2010, 5(12): e15303. doi: 10.1371/journal.pone.0015303
    [26]
    ZAFARULLAH M, TASSONE F. Molecular biomarkers in fragile X syndrome[J]. Brain Sci, 2019, 9(5): E96. doi: 10.3390/brainsci9050096
    [27]
    HUANG G, ZHU H, WU S Y, et al. Long noncoding RNA can be a probable mechanism and a novel target for diagnosis and therapy in fragile X syndrome[J]. Front Genet, 2019, 10: 446-446. doi: 10.3389/fgene.2019.00446
    [28]
    GARCÍA-ALEGRÍA E, IBÁÑEZ B, MÍNGUEZ M, et al. Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models[J]. RNA, 2007, 13(5): 756-762. doi: 10.1261/rna.206307
    [29]
    ENNIS S, WARD D, MURRAY A. Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers[J]. Eur J Hum Genet, 2006, 14(2): 253-255. doi: 10.1038/sj.ejhg.5201510
    [30]
    RODRIGUEZ-REVENGA L, MADRIGAL I, BADENAS C, et al. Premature ovarian failure and fragile X female premutation carriers[J]. Menopause, 2009, 16(5): 944-949. doi: 10.1097/gme.0b013e3181a06a37
    [31]
    HUNDSCHEID R D, SISTERMANS E A, THOMAS C M, et al. Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations[J]. Am J Hum Genet, 2000, 66(2): 413-418. doi: 10.1086/302774
    [32]
    HUNTER J, OLIVER RIVERO-ARIAS, ANGELOV A, et al. Epidemiology. of fragile X syndrome: A systematic review and meta-analysis[J]. American Journal of Medical Genetics Part A, 2014, 164(7): 1648-1658. doi: 10.1002/ajmg.a.36511
    [33]
    YE Y Q, LAN X P, CONG J, et al. Analysis of CGG repeats in FMR1 in Chinese women with idiopathic premature ovarian failure[J]. Reprod Biomed Online, 2014, 29(3): 382-387. doi: 10.1016/j.rbmo.2014.05.004
    [34]
    陈蔚琳, 金力, 武淑英, 等. FMR1基因CGG重复序列频度与反复生育失败或卵巢早衰妇女的相关性研究[J]. 生殖医学杂志, 2018, 27(10): 946-951. doi: 10.3969/j.issn.1004-3845.2018.10.004
    [35]
    MA Y N, WEI X, PAN H, et al. The prevalence of CGG repeat expansion mutation in FMR1 gene in the northern Chinese women of reproductive age[J]. BMC Med Genet, 2019, 20(1): 81-85. doi: 10.1186/s12881-019-0805-z
  • Cited by

    Periodical cited type(1)

    1. 张睿,周澜华,张惠,姜砚馨,李一芃,王旭,冯丽莉,张建军. 基于CiteSpace分析国内痤疮患者生命质量的热点和趋势. 中国医药导报. 2023(13): 83-87+117 .

    Other cited types(0)

Catalog

    Article views (455) PDF downloads (24) Cited by(1)

    /

    DownLoad:  Full-Size Img  PowerPoint
    Return
    Return