KEGG DISEASE: Oocyte/zygote/embryo maturation arrest

DISEASE: Oocyte/zygote/embryo maturation arrest

Entry

H01897                      Disease

Name

Oocyte/zygote/embryo maturation arrest

Subgroup

Oocyte maturation defect (OOMD)
Preimplantation embryonic lethality [DS:H02335]

Description

Human reproduction requires gamete maturation, fertilization, and early embryonic development. Oocyte maturation includes nuclear and cytoplasmic maturation, and abnormalities in the process will lead to infertility. Currently, several genes have been reported to be the causes of Oocyte/zygote/embryo maturation arrest (OZEMA).

Category

Reproductive system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
16 Diseases of the genitourinary system
  Diseases of the female genital system
   GA31  Female infertility
    H01897  Oocyte/zygote/embryo maturation arrest
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06515  Regulation of kinetochore-microtubule interactions
   H01897  Oocyte/zygote/embryo maturation arrest
  nt06535  Efferocytosis
   H01897  Oocyte/zygote/embryo maturation arrest

Network

nt06515 Regulation of kinetochore-microtubule interactions
nt06535 Efferocytosis

Gene

(OZEMA1) ZP1 [HSA:22917] [KO:K19926]
(OZEMA2) TUBB8 [HSA:347688] [KO:K07375]
(OZEMA3) ZP3 [HSA:7784] [KO:K19928]
(OZEMA4) PATL2 [HSA:197135] [KO:K24823]
(OZEMA5) WEE2 [HSA:494551] [KO:K06632]
(OZEMA6) ZP2 [HSA:7783] [KO:K19927]
(OZEMA7) PANX1 [HSA:24145] [KO:K03443]
(OZEMA8) BTG4 [HSA:54766] [KO:K14443]
(OZEMA9) TRIP13 [HSA:9319] [KO:K22399]
(OZEMA10) REC114 [HSA:283677] [KO:K26084]
(OZEMA11) ASTL [HSA:431705] [KO:K08778]
(OZEMA12) FBXO43 [HSA:286151] [KO:K10318]
(OZEMA13) ZFP36L2 [HSA:678] [KO:K18753]
(OZEMA14) CDC20 [HSA:991] [KO:K03363]
(OZEMA15) TLE6 [HSA:79816] [KO:K04497]
(OZEMA16) PADI6 [HSA:353238] [KO:K01481]
(OZEMA17) KPNA7 [HSA:402569] [KO:K15043]
(OZEMA18) NLRP2 [HSA:55655] [KO:K19409]
(OZEMA19) NLRP5 [HSA:126206] [KO:K22626]
(OZEMA20) MOS [HSA:4342] [KO:K04367]
(OZEMA21) CHEK1 [HSA:1111] [KO:K02216]

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 620276 616814 617234 620319 620332 620333 620383 620610

Reference

PMID:33895934

Authors

Sang Q, Zhou Z, Mu J, Wang L

Title

Genetic factors as potential molecular markers of human oocyte and embryo quality.

Journal

J Assist Reprod Genet 38:993-1002 (2021)
DOI:10.1007/s10815-021-02196-z

Reference

PMID:24670168 (OZEMA1)

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

Reference

PMID:26789871 (OZEMA2)

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

Reference

PMID:28886344 (OZEMA3)

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

Reference

PMID:28965849 (OZEMA4)

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

Reference

PMID:29606300 (OZEMA5)

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

Reference

PMID:29895852 (OZEMA6)

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

Reference

PMID:30918116 (OZEMA7)

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

Reference

PMID:32502391 (OZEMA8)

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

Reference

PMID:32473092 (OZEMA9)

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

Reference

PMID:31704776 (OZEMA10)

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

Reference

PMID:34704130 (OZEMA11)

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

Reference

PMID:34052850 (OZEMA12)

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

Reference

PMID:34611029 (OZEMA13)

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

Reference

PMID:34218387 (OZEMA14)

Authors

Xu Y, Zhu X, Wang M, Cai L, Ge Q, Fu Y, Jin L

Title

The homozygous p.Tyr228Cys variant in CDC20 causes oocyte maturation arrest: an additional evidence supporting the causality between CDC20 mutation and female infertility.

Journal

J Assist Reprod Genet 38:2219-2222 (2021)
DOI:10.1007/s10815-021-02269-z

Reference

PMID:26537248 (OZEMA15)

Authors

Alazami AM, Awad SM, Coskun S, Al-Hassan S, Hijazi H, Abdulwahab FM, Poizat C, Alkuraya FS

Title

TLE6 mutation causes the earliest known human embryonic lethality.

Journal

Genome Biol 16:240 (2015)
DOI:10.1186/s13059-015-0792-0

Reference

PMID:27545678 (OZEMA16)

Authors

Xu Y, Shi Y, Fu J, Yu M, Feng R, Sang Q, Liang B, Chen B, Qu R, Li B, Yan Z, Mao X, Kuang Y, Jin L, He L, Sun X, Wang L

Title

Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest.

Journal

Am J Hum Genet 99:744-752 (2016)
DOI:10.1016/j.ajhg.2016.06.024

Reference

PMID:36647821 (OZEMA17)

Authors

Wang W, Miyamoto Y, Chen B, Shi J, Diao F, Zheng W, Li Q, Yu L, Li L, Xu Y, Wu L, Mao X, Fu J, Li B, Yan Z, Shi R, Xue X, Mu J, Zhang Z, Wu T, Zhao L, Wang W, Zhou Z, Dong J, Li Q, Jin L, He L, Sun X, Lin G, Kuang Y, Wang L, Sang Q

Title

Karyopherin alpha deficiency contributes to human preimplantation embryo arrest.

Journal

J Clin Invest 133:159951 (2023)
DOI:10.1172/JCI159951

Reference

PMID:30877238 (OZEMA18_19)

Authors

Mu J, Wang W, Chen B, Wu L, Li B, Mao X, Zhang Z, Fu J, Kuang Y, Sun X, Li Q, Jin L, He L, Sang Q, Wang L

Title

Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest.

Journal

J Med Genet 56:471-480 (2019)
DOI:10.1136/jmedgenet-2018-105936

Reference

PMID:35091966 (OZEMA19)

Authors

Huang L, Wang Y, Lu F, Jin Q, Song G, Ji J, Luo L, Jin R, Tong X

Title

Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest.

Journal

J Assist Reprod Genet 39:711-718 (2022)
DOI:10.1007/s10815-022-02412-4

Reference

PMID:36403623 (OZEMA20)

Authors

Jiao G, Lian H, Xing J, Chen L, Du Z, Liu X

Title

MOS mutation causes female infertility with large polar body oocytes.

Journal

Gynecol Endocrinol 38:1158-1163 (2022)
DOI:10.1080/09513590.2022.2147158

Reference

PMID:33953335 (OZEMA21)

Authors

Zhang H, Chen T, Wu K, Hou Z, Zhao S, Zhang C, Gao Y, Gao M, Chen ZJ, Zhao H

Title

Dominant mutations in CHK1 cause pronuclear fusion failure and zygote arrest that can be rescued by CHK1 inhibitor.

Journal

Cell Res 31:814-817 (2021)
DOI:10.1038/s41422-021-00507-8

LinkDB

» Japanese version

DBGET integrated database retrieval system