Christin-Maitre S, Givony M, Albarel F, Bachelot A, Bidet M, Blanc JV, Bouvattier C, Brac de la Perrière A, Catteau-Jonard S, Chevalier N, Carel JC, Coutant R, Donadille B, Duranteau L, El-Khattabi L, Hugon-Rodin J, Houang M, Grynberg M, Kerlan V, Leger J, Misrahi M, Pienkowski C, Plu-Bureau G, Polak M, Reynaud R, Siffroi JP, Sonigo C, Touraine P, Zenaty D. Position statement on the diagnosis and management of premature/primary ovarian insufficiency (except Turner Syndrome). Ann Endocrinol (Paris). 2021;82(6):555–71. https://doi.org/10.1016/j.ando.2021.09.001.
Bouilly J, Bachelot A, Broutin I, Touraine P, Binart N. Novel NOBOX loss-of- function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort. Hum Mutat. 2011;32(10):1108–13. https://doi.org/10.1002/humu.21543.
Article CAS PubMed Google Scholar
Jiao X, Ke H, Qin Y, Chen ZJ. Molecular genetics of premature ovarian insufficiency. Trends Endocrinol Metab. 2018;29(11):795–807. https://doi.org/10.1016/j.tem.2018.07.002.
Article CAS PubMed Google Scholar
Rajkovic A, Pangas SA, Ballow D, Suzumori N, Matzuk MM. NOBOX deficiency disrupts early folliculogenesis and oocyte-specific gene expression. Science. 2004;305(5687):1157–9. https://doi.org/10.1126/science.1099755.
Article CAS PubMed Google Scholar
Lechowska A, Bilinski S, Choi Y, Shin Y, Kloc M, Rajkovic A. Premature ovarian failure in nobox-deficient mice is caused by defects in somatic cell invasion and germ cell cyst breakdown. J Assist Reprod Genet. 2011;28(7):583–9. https://doi.org/10.1007/s10815-011-9553-5.
Article PubMed PubMed Central Google Scholar
Venturella R, De Vivo V, Carlea A, D’Alessandro P, Saccone G, Arduino B, Improda FP, Lico D, Rania E, De Marco C, Viglietto G, Zullo F. The genetics of non-syndromic primary ovarian insufficiency: a systematic review. Int J Fertil Steril. 2019;13(3):161–8. https://doi.org/10.22074/ijfs.2019.5599.
Article CAS PubMed PubMed Central Google Scholar
Patton BK, Madadi S, Briley SM, Ahmed AA, Pangas SA. Sumoylation regulates functional properties of the oocyte transcription factors SOHLH1 and NOBOX. FASEB J. 2023;37(2):e22747. https://doi.org/10.1096/fj.202201481R.
Article CAS PubMed Google Scholar
França MM, Funari MFA, Lerario AM, Nishi MY, Pita CC, Fontenele EGP, Mendonca BB. A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure. Endocrine. 2017;58(3):442–7. https://doi.org/10.1007/s12020-017-1459-2.
Article CAS PubMed Google Scholar
Li L, Wang B, Zhang W, Chen B, Luo M, Wang J, Wang X, Cao Y, Kee K. A homozygous NOBOX truncating variant causes defective transcriptional activation and leads to primary ovarian insufficiency. Hum Reprod. 2017;32(1):248–55. https://doi.org/10.1093/humrep/dew271.
Article CAS PubMed Google Scholar
Bouali N, Francou B, Bouligand J, Lakhal B, Malek I, Kammoun M, Warszawski J, Mougou S, Saad A, Guiochon-Mantel A. NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency. Clin Genet. 2016;89(5):608–13. https://doi.org/10.1111/cge.12750.
Article CAS PubMed Google Scholar
Eskenazi S, Bachelot A, Hugon-Rodin J, Plu-Bureau G, Gompel A, Catteau-Jonard S, Molina-Gomes D, Dewailly D, Dodé C, Christin-Maitre S, Touraine P. Next generation sequencing should be proposed to every woman with “idiopathic” primary ovarian insufficiency. J Endocr Soc. 2021;5(7):bvab032. https://doi.org/10.1210/jendso/bvab032.
Article CAS PubMed PubMed Central Google Scholar
Qin Y, Choi Y, Zhao H, Simpson JL, Chen ZJ, Rajkovic A. NOBOX homeobox mutation causes premature ovarian failure. Am J Hum Genet. 2007;81(3):576–81. https://doi.org/10.1086/519496.
Article CAS PubMed PubMed Central Google Scholar
Bouilly J, Roucher-Boulez F, Gompel A, Bry-Gauillard H, Azibi K, Beldjord C, Dodé C, Bouligand J, Mantel AG, Hécart AC, Delemer B, Young J, Binart N. New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression. J Clin Endocrinol Metab. 2015;100(3):994–1001. https://doi.org/10.1210/jc.2014-2761.
Article CAS PubMed Google Scholar
Luo W, Ke H, Tang S, Jiao X, Li Z, Zhao S, Zhang F, Guo T, Qin Y. Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants. J Ovarian Res. 2023;16(1):39.
Article CAS PubMed PubMed Central Google Scholar
Ferrari I, Bouilly J, Beau I, Guizzardi F, Ferlin A, Pollazzon M, Salerno M, Binart N, Persani L, Rossetti R. Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiency. Hum Mol Genet. 2016;25(23):5223–33. https://doi.org/10.1093/hmg/ddw342.
Article CAS PubMed Google Scholar
França MM, Funari MFA, Lerario AM, Santos MG, Nishi MY, Domenice S, Moraes DR, Costalonga EF, Maciel GAR, Maciel-Guerra AT, Guerra-Junior G, Mendonca BB. Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency. PLoS One. 2020;15(10):e0240795. https://doi.org/10.1371/journal.pone.0240795.
Article CAS PubMed PubMed Central Google Scholar
Luborsky JL, Meyer P, Sowers MF, Gold EB, Santoro N. Premature menopause in a multi-ethnic population study of the menopause transition. Hum Reprod. 2003;18(1):199–206. https://doi.org/10.1093/humrep/deg005.
Article CAS PubMed Google Scholar
Fan S, Jiao Y, Khan R, Jiang X, Javed AR, Ali A, Zhang H, Zhou J, Naeem M, Murtaza G, Li Y, Yang G, Zaman Q, Zubair M, Guan H, Zhang X, Ma H, Jiang H, Ali H, Dil S, Shah W, Ahmad N, Zhang Y, Shi Q. Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans. Am J Hum Genet. 2021;108(2):324–36. https://doi.org/10.1016/j.ajhg.2021.01.010. (Erratum in: Am J Hum Genet. 2022 Jul 7;109(7):1343).
Article CAS PubMed PubMed Central Google Scholar
Ke H, Tang S, Guo T, Hou D, Jiao X, Li S, Luo W, Xu B, Zhao S, Li G, Zhang X, Xu S, Wang L, Wu Y, Wang J, Zhang F, Qin Y, Jin L, Chen ZJ. Landscape of pathogenic mutations in premature ovarian insufficiency. Nat Med. 2023;29(2):483–92. https://doi.org/10.1038/s41591-022-02194-3.
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