| H01897 | |
| H number | H01897 |
| Name | Oocyte maturation defect |
| Description | 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. |
| Category | Reproductive system disease |
| Network | nt06515(H01897) Regulation of kinetochore-microtubule interactions |
| Gene | (OOMD1) ZP1 [HSA:22917] [KO:K19926] (OOMD2) TUBB8 [HSA:347688] [KO:K07375] (OOMD3) ZP3 [HSA:7784] [KO:K19928] (OOMD4) PATL2 [HSA:197135] [KO:K24823] (OOMD5) WEE2 [HSA:494551] [KO:K06632] (OOMD6) ZP2 [HSA:7783] [KO:K19927] (OOMD7) PANX1 [HSA:24145] [KO:K03443] (OOMD8) BTG4 [HSA:54766] [KO:K14443] (OOMD9) TRIP13 [HSA:9319] [KO:K22399] (OOMD10) REC114 [HSA:283677] [KO:K26084] (OOMD11) ASTL [HSA:431705] [KO:K08778] (OOMD12) FBXO43 [HSA:286151] [KO:K10318] (OOMD13) ZFP36L2 [HSA:678] [KO:K18753] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: GA31.0Y ICD-10: N97.8 MeSH: D007247 OMIM: 615774 616780 617712 617743 617996 618353 618550 619009 619011 619176 619643 619697 620154 |
| Reference | PMID:24670168 (OOMD1) AUTHORS Huang HL, Lv C, Zhao YC, Li W, He XM, Li P, Sha AG, Tian X, Papasian CJ, Deng HW, Lu GX, Xiao HM TITLE Mutant ZP1 in familial infertility. JOURNAL N Engl J Med 370:1220-6 (2014) DOI:10.1056/NEJMoa1308851 PMID:26789871 (OOMD2) AUTHORS Feng R, Sang Q, Kuang Y, Sun X, Yan Z, Zhang S, Shi J, Tian G, Luchniak A, Fukuda Y, Li B, Yu M, Chen J, Xu Y, Guo L, Qu R, Wang X, Sun Z, Liu M, Shi H, Wang H, Feng Y, Shao R, Chai R, Li Q, Xing Q, Zhang R, Nogales E, Jin L, He L, Gupta ML Jr, Cowan NJ, Wang L TITLE Mutations in TUBB8 and Human Oocyte Meiotic Arrest. JOURNAL N Engl J Med 374:223-32 (2016) DOI:10.1056/NEJMoa1510791 PMID:28886344 (OOMD3) AUTHORS Chen T, Bian Y, Liu X, Zhao S, Wu K, Yan L, Li M, Yang Z, Liu H, Zhao H, Chen ZJ TITLE A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility. JOURNAL Am J Hum Genet 101:459-465 (2017) DOI:10.1016/j.ajhg.2017.08.001 PMID:28965849 (OOMD4) AUTHORS Chen B, Zhang Z, Sun X, Kuang Y, Mao X, Wang X, Yan Z, Li B, Xu Y, Yu M, Fu J, Mu J, Zhou Z, Li Q, Jin L, He L, Sang Q, Wang L TITLE Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest. JOURNAL Am J Hum Genet 101:609-615 (2017) DOI:10.1016/j.ajhg.2017.08.018 PMID:29606300 (OOMD5) AUTHORS Sang Q, Li B, Kuang Y, Wang X, Zhang Z, Chen B, Wu L, Lyu Q, Fu Y, Yan Z, Mao X, Xu Y, Mu J, Li Q, Jin L, He L, Wang L TITLE Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility. JOURNAL Am J Hum Genet 102:649-657 (2018) DOI:10.1016/j.ajhg.2018.02.015 PMID:29895852 (OOMD6) AUTHORS Dai C, Hu L, Gong F, Tan Y, Cai S, Zhang S, Dai J, Lu C, Chen J, Chen Y, Lu G, Du J, Lin G TITLE ZP2 pathogenic variants cause in vitro fertilization failure and female infertility. JOURNAL Genet Med 21:431-440 (2019) DOI:10.1038/s41436-018-0064-y PMID:30918116 (OOMD7) AUTHORS Sang Q, Zhang Z, Shi J, Sun X, Li B, Yan Z, Xue S, Ai A, Lyu Q, Li W, Zhang J, Wu L, Mao X, Chen B, Mu J, Li Q, Du J, Sun Q, Jin L, He L, Zhu S, Kuang Y, Wang L TITLE A pannexin 1 channelopathy causes human oocyte death. JOURNAL Sci Transl Med 11:eaav8731 (2019) DOI:10.1126/scitranslmed.aav8731 PMID:32502391 (OOMD8) AUTHORS Zheng W, Zhou Z, Sha Q, Niu X, Sun X, Shi J, Zhao L, Zhang S, Dai J, Cai S, Meng F, Hu L, Gong F, Li X, Fu J, Shi R, Lu G, Chen B, Fan H, Wang L, Lin G, Sang Q TITLE Homozygous Mutations in BTG4 Cause Zygotic Cleavage Failure and Female Infertility. JOURNAL Am J Hum Genet 107:24-33 (2020) DOI:10.1016/j.ajhg.2020.05.010 PMID:32473092 (OOMD9) AUTHORS Zhang Z, Li B, Fu J, Li R, Diao F, Li C, Chen B, Du J, Zhou Z, Mu J, Yan Z, Wu L, Liu S, Wang W, Zhao L, Dong J, He L, Liang X, Kuang Y, Sun X, Sang Q, Wang L TITLE Bi-allelic Missense Pathogenic Variants in TRIP13 Cause Female Infertility Characterized by Oocyte Maturation Arrest. JOURNAL Am J Hum Genet 107:15-23 (2020) DOI:10.1016/j.ajhg.2020.05.001 PMID:31704776 (OOMD10) AUTHORS Wang W, Dong J, Chen B, Du J, Kuang Y, Sun X, Fu J, Li B, Mu J, Zhang Z, Zhou Z, Lin Z, Wu L, Yan Z, Mao X, Li Q, He L, Wang L, Sang Q TITLE Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest. JOURNAL J Med Genet 57:187-194 (2020) DOI:10.1136/jmedgenet-2019-106379 PMID:34704130 (OOMD11) AUTHORS Maddirevula S, Coskun S, Al-Qahtani M, Aboyousef O, Alhassan S, Aldeery M, Alkuraya FS TITLE ASTL is mutated in female infertility. JOURNAL Hum Genet 10.1007/s00439-021-02388-8 (2021) DOI:10.1007/s00439-021-02388-8 PMID:34052850 (OOMD12) AUTHORS Wang W, Wang W, Xu Y, Shi J, Fu J, Chen B, Mu J, Zhang Z, Zhao L, Lin J, Du J, Li Q, He L, Jin L, Sun X, Wang L, Sang Q TITLE FBXO43 variants in patients with female infertility characterized by early embryonic arrest. JOURNAL Hum Reprod 36:2392-2402 (2021) DOI:10.1093/humrep/deab131 PMID:34611029 (OOMD13) AUTHORS Zheng W, Sha QQ, Hu H, Meng F, Zhou Q, Chen X, Zhang S, Gu Y, Yan X, Zhao L, Zong Y, Hu L, Gong F, Lu G, Fan HY, Lin G TITLE Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest. JOURNAL J Med Genet 59:850-857 (2022) DOI:10.1136/jmedgenet-2021-107933 |