Oocyte maturation defect

Definition:

The human zona pellucida is composed of four glycoproteins (ZP1, ZP2, ZP3, and ZP4) and has an important role in reproduction. Until now, variants in ZP1, ZP2 and ZP3 genes have been reported to be the causes for oocyte maturation defect (OOMD) and female infertility. Recently, it has been reported that mutations in TUBB8, a beta-tubulin isotype of hitherto undetermined function, interfere with human oocyte maturation. They are either inherited paternally as an autosomal dominant or arise de novo.

References:

[1]. Biaobang Chen, et al. Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest. Am J Hum Genet. 2017 Oct 5;101(4):609-615. [Content Brief]

[2]. Can Dai, et al. ZP2 pathogenic variants cause in vitro fertilization failure and female infertility. Genet Med. 2019 Feb;21(2):431-440. [Content Brief]

[3]. Hua-Lin Huang, et al. Mutant ZP1 in familial infertility. N Engl J Med. 2014 Mar 27;370(13):1220-6. [Content Brief]

[4]. Qing Sang, et al. A pannexin 1 channelopathy causes human oocyte death. Sci Transl Med. 2019 Mar 27;11(485):eaav8731. [Content Brief]

[5]. Qing Sang, et al. Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility. Am J Hum Genet. 2018 Apr 5;102(4):649-657. [Content Brief]

[6]. Ruizhi Feng, et al. Mutations in TUBB8 and Human Oocyte Meiotic Arrest. N Engl J Med. 2016 Jan 21;374(3):223-32. [Content Brief]

[7]. Sateesh Maddirevula, et al. ASTL is mutated in female infertility. Hum Genet. 2022 Jan;141(1):49-54. [Content Brief]

[8]. Tailai Chen, et al. A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility. Am J Hum Genet. 2017 Sep 7;101(3):459-465. [Content Brief]

[9]. Wei Zheng, et al. Homozygous Mutations in BTG4 Cause Zygotic Cleavage Failure and Female Infertility. Am J Hum Genet. 2020 Jul 2;107(1):24-33. [Content Brief]

[10]. Weijie Wang, et al. FBXO43 variants in patients with female infertility characterized by early embryonic arrest. Hum Reprod. 2021 Jul 19;36(8):2392-2402. [Content Brief]

[11]. Wenjing Wang, et al. Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest. J Med Genet. 2020 Mar;57(3):187-194. [Content Brief]

[12]. Zhihua Zhang, et al. Bi-allelic Missense Pathogenic Variants in TRIP13 Cause Female Infertility Characterized by Oocyte Maturation Arrest. Am J Hum Genet. 2020 Jul 2;107(1):15-23. [Content Brief]

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