| H01897 | |
| H番号 | H01897 |
| 名称 | 卵母細胞の成熟異常 |
| 概要 | 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. |
| カテゴリ | 生殖器系疾患 |
| ネットワーク | nt06515(H01897) Regulation of kinetochore-microtubule interactions |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: GA31.0Y ICD-10: N97.8 MeSH: D007247 OMIM: 615774 616780 617712 617743 617996 618353 618550 619009 619011 619176 619643 619697 620154 |
| 文献 | PMID:24670168 (OOMD1) 著者 Huang HL, Lv C, Zhao YC, Li W, He XM, Li P, Sha AG, Tian X, Papasian CJ, Deng HW, Lu GX, Xiao HM タイトル Mutant ZP1 in familial infertility. 雑誌 N Engl J Med 370:1220-6 (2014) DOI:10.1056/NEJMoa1308851 PMID:26789871 (OOMD2) 著者 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 タイトル Mutations in TUBB8 and Human Oocyte Meiotic Arrest. 雑誌 N Engl J Med 374:223-32 (2016) DOI:10.1056/NEJMoa1510791 PMID:28886344 (OOMD3) 著者 Chen T, Bian Y, Liu X, Zhao S, Wu K, Yan L, Li M, Yang Z, Liu H, Zhao H, Chen ZJ タイトル A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility. 雑誌 Am J Hum Genet 101:459-465 (2017) DOI:10.1016/j.ajhg.2017.08.001 PMID:28965849 (OOMD4) 著者 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 タイトル Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest. 雑誌 Am J Hum Genet 101:609-615 (2017) DOI:10.1016/j.ajhg.2017.08.018 PMID:29606300 (OOMD5) 著者 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 タイトル Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility. 雑誌 Am J Hum Genet 102:649-657 (2018) DOI:10.1016/j.ajhg.2018.02.015 PMID:29895852 (OOMD6) 著者 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 タイトル ZP2 pathogenic variants cause in vitro fertilization failure and female infertility. 雑誌 Genet Med 21:431-440 (2019) DOI:10.1038/s41436-018-0064-y PMID:30918116 (OOMD7) 著者 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 タイトル A pannexin 1 channelopathy causes human oocyte death. 雑誌 Sci Transl Med 11:eaav8731 (2019) DOI:10.1126/scitranslmed.aav8731 PMID:32502391 (OOMD8) 著者 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 タイトル Homozygous Mutations in BTG4 Cause Zygotic Cleavage Failure and Female Infertility. 雑誌 Am J Hum Genet 107:24-33 (2020) DOI:10.1016/j.ajhg.2020.05.010 PMID:32473092 (OOMD9) 著者 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 タイトル Bi-allelic Missense Pathogenic Variants in TRIP13 Cause Female Infertility Characterized by Oocyte Maturation Arrest. 雑誌 Am J Hum Genet 107:15-23 (2020) DOI:10.1016/j.ajhg.2020.05.001 PMID:31704776 (OOMD10) 著者 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 タイトル Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest. 雑誌 J Med Genet 57:187-194 (2020) DOI:10.1136/jmedgenet-2019-106379 PMID:34704130 (OOMD11) 著者 Maddirevula S, Coskun S, Al-Qahtani M, Aboyousef O, Alhassan S, Aldeery M, Alkuraya FS タイトル ASTL is mutated in female infertility. 雑誌 Hum Genet 10.1007/s00439-021-02388-8 (2021) DOI:10.1007/s00439-021-02388-8 PMID:34052850 (OOMD12) 著者 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 タイトル FBXO43 variants in patients with female infertility characterized by early embryonic arrest. 雑誌 Hum Reprod 36:2392-2402 (2021) DOI:10.1093/humrep/deab131 PMID:34611029 (OOMD13) 著者 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 タイトル Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest. 雑誌 J Med Genet 59:850-857 (2022) DOI:10.1136/jmedgenet-2021-107933 |