Oocyte/zygote/embryo maturation arrest: a clinical study expanding the phenotype of NOBOX variants

Fortuño C, Labarta E. Genetics of primary ovarian insufficiency: a review. J Assist Reprod Genet. 2014;31:1573–85.

Article  PubMed  PubMed Central  Google Scholar 

Rudnicka E, Kruszewska J, Klicka K, Kowalczyk J, Grymowicz M, Skórska J, et al. Premature ovarian insufficiency – aetiopathology, epidemiology, and diagnostic evaluation. Prz Menopauzalny. 2018;17:105–8.

PubMed  PubMed Central  Google Scholar 

Van Der Kelen A, Okutman Ö, Javey E, Serdarogullari M, Janssens C, Ghosh MS, et al. A systematic review and evidence assessment of monogenic gene-disease relationships in human female infertility and differences in sex development. Hum Reprod Update. 2023;29(2):218–32.

Volozonoka L, Miskova A, Kornejeva L, Kempa I, Bargatina V, Gailite L. A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure. Reproduction. 2022;163:351–63.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Beall S, Brenner C, Segars J. Oocyte maturation failure: a syndrome of bad eggs. Fertil Steril. 2010;94:2507–13.

Article  PubMed  PubMed Central  Google Scholar 

Rajkovic A, Pangas SA, Ballow D, Suzumori N, Matzuk MM. NOBOX deficiency disrupts early folliculogenesis and oocyte-specific gene expression. Science. 2004;305:1157–9.

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;28:583–9.

Article  PubMed  PubMed Central  Google Scholar 

Qin M, Xie Q, Wu K, Zhou X, Ge W. Loss of Nobox prevents ovarian differentiation from juvenile ovaries in zebrafish. Biol Reprod. 2022;106:1254–66.

Article  PubMed  Google Scholar 

Sassi A, Désir J, Duerinckx S, Soblet J, Van Dooren S, Bonduelle M, et al. Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea. Mol Genet Genomic Med. 2021;9:e1776.

Article  CAS  PubMed  PubMed Central  Google Scholar 

França MM, Funari MFA, Lerario AM, Nishi MY, Pita CC, Fontenele EGP, et al. A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure. Endocrine. 2017;58:442–7.

Article  PubMed  Google Scholar 

Li L, Wang B, Zhang W, Chen B, Luo M, Wang J, et al. A homozygous NOBOX truncating variant causes defective transcriptional activation and leads to primary ovarian insufficiency. Hum Reprod. 2017;32:248–55.

CAS  PubMed  Google Scholar 

Luo W, Ke H, Tang S, Jiao X, Li Z, Zhao S, et al. Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants. J Ovarian Res. 2023;16:39.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Verpoest W, De Rademaeker M, Sermon K, De Rycke M, Seneca S, Papanikolaou E, et al. Real and expected delivery rates of patients with myotonic dystrophy undergoing intracytoplasmic sperm injection and preimplantation genetic diagnosis. Hum Reprod. 2008;23:1654–60.

Article  CAS  PubMed  Google Scholar 

Mateizel I, Santos-Ribeiro S, Segers I, Wouters K, Mackens S, Verheyen G. Effect of A23187 ionophore treatment on human blastocyst development—a sibling oocyte study. J Assist Reprod Genet. 2022;39:1225–32.

Article  PubMed  PubMed Central  Google Scholar 

Gardner DK, Lane M, Stevens J, Schlenker T, Schoolcraft WB. Blastocyst score affects implantation and pregnancy outcome: towards a single blastocyst transfer. Fertil Steril. 2000;73:1155–8.

Article  CAS  PubMed  Google Scholar 

Liu Y, Kong X, Wu Q, Li G, Song L, Sun Y-P. Karyotype analysis in large-sample infertile couples living in Central China: a study of 14965 couples. J Assist Reprod Genet. 2013;30:547–53.

Article  PubMed  PubMed Central  Google Scholar 

Huang J, Zhang W, Liu Y, Liu Y, Wang J, Jiang H. Association between the FMR1 CGG repeat lengths and the severity of idiopathic primary ovarian insufficiency: a meta analysis. Artif Cells Nanomed Biotechnol. 2019;47:3116–22.

Article  CAS  PubMed  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.

Article  PubMed  PubMed Central  Google Scholar 

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. Human Mutation. 2011;32:1108–13.

Article  CAS  PubMed  Google Scholar 

Bouilly J, Roucher-Boulez F, Gompel A, Bry-Gauillard H, Azibi K, Beldjord C, et al. New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression. J Clin Endocrinol Metab. 2015;100:994–1001.

Article  CAS  PubMed  Google Scholar 

Ferrari I, Bouilly J, Beau I, Guizzardi F, Ferlin A, Pollazzon M, et al. Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiency. Hum Mol Genet. 2016;25:5223–33.

CAS  PubMed  Google Scholar 

França MM, Funari MFA, Lerario AM, Santos MG, Nishi MY, Domenice S, et al. Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency. PLoS One [Internet]. 2020 [cited 2020 Nov 24];15. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7584253/

Jolly A, Bayram Y, Turan S, Aycan Z, Tos T, Abali ZY, et al. Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease. J Clin Endocrinol Metab. 2019;104:3049–67.

Article  PubMed  PubMed Central  Google Scholar 

Cattoni A, Spano A, Tulone A, Boneschi A, Masera N, Maitz S, et al. The potential synergic effect of a complex pattern of multiple inherited genetic variants as a pathogenic factor for ovarian dysgenesis: a case report. Front Endocrinol (Lausanne). 2020;11:540683.

Article  PubMed  Google Scholar 

Bestetti I, Barbieri C, Sironi A, Specchia V, Yatsenko SA, De Donno MD, et al. Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency. Hum Reprod. 2021;36:2975–91.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jordan P, Verebi C, Perol S, Grotto S, Fouveaut C, Christin-Maitre S, et al. NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights. J Assist Reprod Genet. 2024;41:135–46.

Article  PubMed  Google Scholar 

National Center for Biotechnology Information. ClinVar [Database] [Internet]. 2024 [cited 2024 Apr 30]. Available from: https://www.ncbi.nlm.nih.gov/clinvar/variation/970942/

Qin Y, Choi Y, Zhao H, Simpson JL, Chen Z-J, Rajkovic A. NOBOX homeobox mutation causes premature ovarian failure. Am J Hum Genet. 2007;81:576–81.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhang Y, Zheng W, Ren P, Hu H, Tong X, Zhang S, et al. Biallelic mutations in MOS cause female infertility characterized by human early embryonic arrest and fragmentation. EMBO Mol Med. 2021;13:e14887.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhang Y-L, Zheng W, Ren P, Jin J, Hu Z, Liu Q, et al. Biallelic variants in MOS cause large polar body in oocyte and human female infertility. Hum Reprod. 2022;37:1932–44.

Article  CAS  PubMed  Google Scholar 

Jiao G, Lian H, Xing J, Chen L, Du Z, Liu X. MOS mutation causes female infertility with large polar body oocytes. Gynecol Endocrinol. 2022;38:1158–63.

Article  CAS  PubMed  Google Scholar 

Zeng Y, Shi J, Xu S, Shi R, Wu T, Li H, et al. Bi-allelic mutations in MOS cause female infertility characterized by preimplantation embryonic arrest. Hum Reprod. 2022;37:612–20.

Article  CAS  PubMed  Google Scholar 

Nichols J, Zevnik B, Anastassiadis K, Niwa H, Klewe-Nebenius D, Chambers I, et al. Formation of pluripotent stem cells in the mammalian embryo depends on the POU transcription factor Oct4. Cell. 1998;95:379–91.

Comments (0)

No login
gif