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Preimplantation embryonic lethality 2(OZEMA16)

MedGen UID:
934626
•Concept ID:
C4310659
•
Disease or Syndrome
Synonyms: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 16; OZEMA16
 
Gene (location): PADI6 (1p36.13)
 
OMIM®: 617234

Clinical features

From HPO
Infertility disorder
MedGen UID:
43876
•Concept ID:
C0021359
•
Finding
Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.
See: Feature record | Search on this feature
Preimplantation lethality
MedGen UID:
1689832
•Concept ID:
C5139371
•
Finding
It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual's embryos are arrested at early stages of development.
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Professional guidelines

PubMed

FMR1 low sub-genotype does not rescue BRCA1/2-mutated human embryos and does not explain primary ovarian insufficiency among BRCA1/2-carriers.
Brandão RD, van Roozendaal K, Tserpelis D, Blok MJ
Hum Reprod 2013 Aug;28(8):2308-11. Epub 2013 Jun 11 doi: 10.1093/humrep/det254. PMID: 23760159

Recent clinical studies

Etiology

Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual genomic data.
Capalbo A, Poli M, Riera-Escamilla A, Shukla V, Kudo Høffding M, Krausz C, Hoffmann ER, Simon C
Hum Reprod Update 2021 Feb 19;27(2):254-279. doi: 10.1093/humupd/dmaa044. PMID: 33197264
FMR1 low sub-genotype does not rescue BRCA1/2-mutated human embryos and does not explain primary ovarian insufficiency among BRCA1/2-carriers.
Brandão RD, van Roozendaal K, Tserpelis D, Blok MJ
Hum Reprod 2013 Aug;28(8):2308-11. Epub 2013 Jun 11 doi: 10.1093/humrep/det254. PMID: 23760159
The polycomb-group gene Ezh2 is required for early mouse development.
O'Carroll D, Erhardt S, Pagani M, Barton SC, Surani MA, Jenuwein T
Mol Cell Biol 2001 Jul;21(13):4330-6. doi: 10.1128/MCB.21.13.4330-4336.2001. PMID: 11390661Free PMC Article
Archival fixed and analysed preimplantation human embryonic cells: a DNA resource for retrospective PCR analysis at the cellular level.
Smith TA, Wall MB, Muggleton-Harris AL
Mol Hum Reprod 1997 Feb;3(2):149-55. doi: 10.1093/molehr/3.2.149. PMID: 9239719
The embryonic lethality of homozygous lethal yellow mice (Ay/Ay) is associated with the disruption of a novel RNA-binding protein.
Michaud EJ, Bultman SJ, Stubbs LJ, Woychik RP
Genes Dev 1993 Jul;7(7A):1203-13. doi: 10.1101/gad.7.7a.1203. PMID: 8319910

Diagnosis

Maternal exome analysis for the diagnosis of oocyte maturation defects and early embryonic developmental arrest.
Capalbo A, Buonaiuto S, Figliuzzi M, Damaggio G, Girardi L, Caroselli S, Poli M, Patassini C, Cetinkaya M, Yuksel B, Azad A, Grøndahl ML, Hoffmann ER, Simón C, Colonna V, Kahraman S
Reprod Biomed Online 2022 Sep;45(3):508-518. Epub 2022 May 21 doi: 10.1016/j.rbmo.2022.05.009. PMID: 35798635
Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual genomic data.
Capalbo A, Poli M, Riera-Escamilla A, Shukla V, Kudo Høffding M, Krausz C, Hoffmann ER, Simon C
Hum Reprod Update 2021 Feb 19;27(2):254-279. doi: 10.1093/humupd/dmaa044. PMID: 33197264
Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes.
Robbins SM, Thimm MA, Valle D, Jelin AC
J Assist Reprod Genet 2019 Aug;36(8):1539-1548. Epub 2019 Jul 4 doi: 10.1007/s10815-019-01499-6. PMID: 31273585Free PMC Article
Activation of endogenous human stem cell-associated retroviruses (SCARs) and therapy-resistant phenotypes of malignant tumors.
Glinsky GV
Cancer Lett 2016 Jul 1;376(2):347-59. Epub 2016 Apr 12 doi: 10.1016/j.canlet.2016.04.014. PMID: 27084523
Archival fixed and analysed preimplantation human embryonic cells: a DNA resource for retrospective PCR analysis at the cellular level.
Smith TA, Wall MB, Muggleton-Harris AL
Mol Hum Reprod 1997 Feb;3(2):149-55. doi: 10.1093/molehr/3.2.149. PMID: 9239719

Therapy

Maternal exome analysis for the diagnosis of oocyte maturation defects and early embryonic developmental arrest.
Capalbo A, Buonaiuto S, Figliuzzi M, Damaggio G, Girardi L, Caroselli S, Poli M, Patassini C, Cetinkaya M, Yuksel B, Azad A, Grøndahl ML, Hoffmann ER, Simón C, Colonna V, Kahraman S
Reprod Biomed Online 2022 Sep;45(3):508-518. Epub 2022 May 21 doi: 10.1016/j.rbmo.2022.05.009. PMID: 35798635
Activation of endogenous human stem cell-associated retroviruses (SCARs) and therapy-resistant phenotypes of malignant tumors.
Glinsky GV
Cancer Lett 2016 Jul 1;376(2):347-59. Epub 2016 Apr 12 doi: 10.1016/j.canlet.2016.04.014. PMID: 27084523
Analysis of reproductive toxicity and classification of glufosinate-ammonium.
Schulte-Hermann R, Wogan GN, Berry C, Brown NA, Czeizel A, Giavini E, Holmes LB, Kroes R, Nau H, Neubert D, Oesch F, Ott T, Pelkonen O, Robert-Gnansia E, Sullivan FM
Regul Toxicol Pharmacol 2006 Apr;44(3 Suppl 1):S1-76. Epub 2006 Feb 28 doi: 10.1016/j.yrtph.2006.01.008. PMID: 16510221

Prognosis

Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual genomic data.
Capalbo A, Poli M, Riera-Escamilla A, Shukla V, Kudo Høffding M, Krausz C, Hoffmann ER, Simon C
Hum Reprod Update 2021 Feb 19;27(2):254-279. doi: 10.1093/humupd/dmaa044. PMID: 33197264
FAM46B is a prokaryotic-like cytoplasmic poly(A) polymerase essential in human embryonic stem cells.
Hu JL, Liang H, Zhang H, Yang MZ, Sun W, Zhang P, Luo L, Feng JX, Bai H, Liu F, Zhang T, Yang JY, Gao Q, Long Y, Ma XY, Chen Y, Zhong Q, Yu B, Liao S, Wang Y, Zhao Y, Zeng MS, Cao N, Wang J, Chen W, Yang HT, Gao S
Nucleic Acids Res 2020 Mar 18;48(5):2733-2748. doi: 10.1093/nar/gkaa049. PMID: 32009146Free PMC Article
Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes.
Robbins SM, Thimm MA, Valle D, Jelin AC
J Assist Reprod Genet 2019 Aug;36(8):1539-1548. Epub 2019 Jul 4 doi: 10.1007/s10815-019-01499-6. PMID: 31273585Free PMC Article
Activation of endogenous human stem cell-associated retroviruses (SCARs) and therapy-resistant phenotypes of malignant tumors.
Glinsky GV
Cancer Lett 2016 Jul 1;376(2):347-59. Epub 2016 Apr 12 doi: 10.1016/j.canlet.2016.04.014. PMID: 27084523
Human amniotic fluid stem cells as a model for functional studies of genes involved in human genetic diseases or oncogenesis.
Rosner M, Dolznig H, Schipany K, Mikula M, Brandau O, Hengstschläger M
Oncotarget 2011 Sep;2(9):705-12. doi: 10.18632/oncotarget.328. PMID: 21926447Free PMC Article

Clinical prediction guides

Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual genomic data.
Capalbo A, Poli M, Riera-Escamilla A, Shukla V, Kudo Høffding M, Krausz C, Hoffmann ER, Simon C
Hum Reprod Update 2021 Feb 19;27(2):254-279. doi: 10.1093/humupd/dmaa044. PMID: 33197264
Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes.
Robbins SM, Thimm MA, Valle D, Jelin AC
J Assist Reprod Genet 2019 Aug;36(8):1539-1548. Epub 2019 Jul 4 doi: 10.1007/s10815-019-01499-6. PMID: 31273585Free PMC Article
PDCD2 controls hematopoietic stem cell differentiation during development.
Kramer J, Granier CJ, Davis S, Piso K, Hand J, Rabson AB, Sabaawy HE
Stem Cells Dev 2013 Jan 1;22(1):58-72. Epub 2012 Aug 16 doi: 10.1089/scd.2012.0074. PMID: 22800338Free PMC Article
Functional dissociation between PIKfyve-synthesized PtdIns5P and PtdIns(3,5)P2 by means of the PIKfyve inhibitor YM201636.
Sbrissa D, Ikonomov OC, Filios C, Delvecchio K, Shisheva A
Am J Physiol Cell Physiol 2012 Aug 15;303(4):C436-46. Epub 2012 May 23 doi: 10.1152/ajpcell.00105.2012. PMID: 22621786Free PMC Article
Lack of WDR36 leads to preimplantation embryonic lethality in mice and delays the formation of small subunit ribosomal RNA in human cells in vitro.
Gallenberger M, Meinel DM, Kroeber M, Wegner M, Milkereit P, Bösl MR, Tamm ER
Hum Mol Genet 2011 Feb 1;20(3):422-35. Epub 2010 Nov 3 doi: 10.1093/hmg/ddq478. PMID: 21051332

Recent systematic reviews

Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes.
Robbins SM, Thimm MA, Valle D, Jelin AC
J Assist Reprod Genet 2019 Aug;36(8):1539-1548. Epub 2019 Jul 4 doi: 10.1007/s10815-019-01499-6. PMID: 31273585Free PMC Article

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