U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Oocyte maturation defect 11(OOMD11; OZEMA11)

MedGen UID:
1794243
•Concept ID:
C5562033
•
Disease or Syndrome
Synonyms: OOCYTE MATURATION DEFECT 11; OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 11; OOMD11; OZEMA11
 
Gene (location): ASTL (2q11.2)
 
Monarch Initiative: MONDO:0030490
OMIM®: 619643

Definition

Oocyte/zygote/embryo maturation arrest-11 (OZEMA11) is characterized by reduced or absent fertility and poor embryonic outcomes with assisted reproductive technology. Oocytes with multiple sperm heads and multiple pronuclei have been observed after overnight in vitro fertilization (Maddirevula et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of OZEMA, see 615774. [from OMIM]

Clinical features

From HPO
Female infertility
MedGen UID:
5795
•Concept ID:
C0021361
•
Pathologic Function
Infertility in a woman.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Fertility in men with cystic fibrosis assessment, investigations and management.
Smith HC
Paediatr Respir Rev 2010 Jun;11(2):80-3. Epub 2010 Mar 12 doi: 10.1016/j.prrv.2010.01.003. PMID: 20416542

Recent clinical studies

Etiology

Effects of vitamin D supplementation on ovulation and pregnancy in women with polycystic ovary syndrome: a systematic review and meta-analysis.
Yang M, Shen X, Lu D, Peng J, Zhou S, Xu L, Zhang J
Front Endocrinol (Lausanne) 2023;14:1148556. Epub 2023 Aug 1 doi: 10.3389/fendo.2023.1148556. PMID: 37593349Free PMC Article
DNA methylation abnormalities induced by advanced maternal age in villi prime a high-risk state for spontaneous abortion.
Qin M, Chen W, Hua L, Meng Y, Wang J, Li H, Yang R, Yan L, Qiao J
Clin Epigenetics 2023 Mar 21;15(1):44. doi: 10.1186/s13148-023-01432-w. PMID: 36945044Free PMC Article
Analysis of nine chromosome probes in first polar bodies and metaphase II oocytes for the detection of aneuploidies.
Pujol A, Boiso I, Benet J, Veiga A, Durban M, Campillo M, Egozcue J, Navarro J
Eur J Hum Genet 2003 Apr;11(4):325-36. doi: 10.1038/sj.ejhg.5200965. PMID: 12700606
Effects of a behavioural rhythm on conception probability and pregnancy outcome.
Boklage CE
Hum Reprod 1996 Oct;11(10):2276-84. doi: 10.1093/oxfordjournals.humrep.a019089. PMID: 9053399
Histologic evaluation of the luteal phase in women following follicle aspiration for oocyte retrieval.
Graf MJ, Reyniak JV, Battle-Mutter P, Laufer N
Fertil Steril 1988 Apr;49(4):616-9. PMID: 2965032

Diagnosis

Obese outbred mice only partially benefit from diet normalization or calorie restriction as preconception care interventions to improve metabolic health and oocyte quality.
Smits A, Marei WFA, Moorkens K, Bols PEJ, De Neubourg D, Leroy JLMR
Hum Reprod 2022 Nov 24;37(12):2867-2884. doi: 10.1093/humrep/deac226. PMID: 36342870
A brief insight into the etiology, genetics, and immunology of polycystic ovarian syndrome (PCOS).
Siddiqui S, Mateen S, Ahmad R, Moin S
J Assist Reprod Genet 2022 Nov;39(11):2439-2473. Epub 2022 Oct 3 doi: 10.1007/s10815-022-02625-7. PMID: 36190593Free PMC Article
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
Preimplantation genetic diagnosis for a couple with recurrent pregnancy loss and triploidy.
Bar-Ami S, Seibel MM, Pierce KE, Zilberstein M
Birth Defects Res A Clin Mol Teratol 2003 Nov;67(11):946-50. doi: 10.1002/bdra.10099. PMID: 14745933
Biochemical study of individual zonae from human oocytes that failed to undergo fertilization in intracytoplasmic sperm injection.
Gross V, Dubey A, Penzias AS, Layman L, Reindollar R, Ducibella T
Mol Hum Reprod 1996 Dec;2(12):959-65. doi: 10.1093/molehr/2.12.959. PMID: 9237240

Therapy

Impact of Bisphenol A and its alternatives on oocyte health: a scoping review.
Peters AE, Ford EA, Roman SD, Bromfield EG, Nixon B, Pringle KG, Sutherland JM
Hum Reprod Update 2024 Dec 1;30(6):653-691. doi: 10.1093/humupd/dmae025. PMID: 39277428Free PMC Article
Effects of vitamin D supplementation on ovulation and pregnancy in women with polycystic ovary syndrome: a systematic review and meta-analysis.
Yang M, Shen X, Lu D, Peng J, Zhou S, Xu L, Zhang J
Front Endocrinol (Lausanne) 2023;14:1148556. Epub 2023 Aug 1 doi: 10.3389/fendo.2023.1148556. PMID: 37593349Free PMC Article
A brief insight into the etiology, genetics, and immunology of polycystic ovarian syndrome (PCOS).
Siddiqui S, Mateen S, Ahmad R, Moin S
J Assist Reprod Genet 2022 Nov;39(11):2439-2473. Epub 2022 Oct 3 doi: 10.1007/s10815-022-02625-7. PMID: 36190593Free PMC Article
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
Experimental and clinical studies on the reproductive toxicology of 2,3,7,8-tetrachlorodibenzo-p-dioxin.
Silbergeld EK, Mattison DR
Am J Ind Med 1987;11(2):131-44. doi: 10.1002/ajim.4700110203. PMID: 3548340

Prognosis

Fertility preservation and PGT-M in women with familial adenomatous polyposis-associated desmoid tumours.
Fouks Y, Sheiman V, Goaz S, Malcov M, Hasson Y, Azem F
Reprod Biomed Online 2021 Oct;43(4):637-644. Epub 2021 Jul 22 doi: 10.1016/j.rbmo.2021.07.010. PMID: 34429254
A Na+ channel mutation linked to hypokalemic periodic paralysis exposes a proton-selective gating pore.
Struyk AF, Cannon SC
J Gen Physiol 2007 Jul;130(1):11-20. doi: 10.1085/jgp.200709755. PMID: 17591984Free PMC Article
Effects of a behavioural rhythm on conception probability and pregnancy outcome.
Boklage CE
Hum Reprod 1996 Oct;11(10):2276-84. doi: 10.1093/oxfordjournals.humrep.a019089. PMID: 9053399

Clinical prediction guides

VPS34 Governs Oocyte Developmental Competence by Regulating Mito/Autophagy: A Novel Insight into the Significance of RAB7 Activity and Its Subcellular Location.
Liu W, Wang K, Lin Y, Wang L, Jin X, Qiu Y, Sun W, Zhang L, Sun Y, Dou X, Luo S, Su Y, Sun Q, Xiang W, Diao F, Li J
Adv Sci (Weinh) 2024 Nov;11(41):e2308823. Epub 2024 Sep 17 doi: 10.1002/advs.202308823. PMID: 39287146Free PMC Article
Impact of Bisphenol A and its alternatives on oocyte health: a scoping review.
Peters AE, Ford EA, Roman SD, Bromfield EG, Nixon B, Pringle KG, Sutherland JM
Hum Reprod Update 2024 Dec 1;30(6):653-691. doi: 10.1093/humupd/dmae025. PMID: 39277428Free PMC Article
Effects of vitamin D supplementation on ovulation and pregnancy in women with polycystic ovary syndrome: a systematic review and meta-analysis.
Yang M, Shen X, Lu D, Peng J, Zhou S, Xu L, Zhang J
Front Endocrinol (Lausanne) 2023;14:1148556. Epub 2023 Aug 1 doi: 10.3389/fendo.2023.1148556. PMID: 37593349Free PMC Article
Chromosome cohesion decreases in human eggs with advanced maternal age.
Duncan FE, Hornick JE, Lampson MA, Schultz RM, Shea LD, Woodruff TK
Aging Cell 2012 Dec;11(6):1121-4. Epub 2012 Aug 27 doi: 10.1111/j.1474-9726.2012.00866.x. PMID: 22823533Free PMC Article
A Na+ channel mutation linked to hypokalemic periodic paralysis exposes a proton-selective gating pore.
Struyk AF, Cannon SC
J Gen Physiol 2007 Jul;130(1):11-20. doi: 10.1085/jgp.200709755. PMID: 17591984Free PMC Article

Recent systematic reviews

Effects of vitamin D supplementation on ovulation and pregnancy in women with polycystic ovary syndrome: a systematic review and meta-analysis.
Yang M, Shen X, Lu D, Peng J, Zhou S, Xu L, Zhang J
Front Endocrinol (Lausanne) 2023;14:1148556. Epub 2023 Aug 1 doi: 10.3389/fendo.2023.1148556. PMID: 37593349Free PMC Article
Effect of COVID-19 vaccination on the outcome of in vitro fertilization: A systematic review and meta-analysis.
Zhang L, Sun X, Wang R, Ma F
Front Public Health 2023;11:1151999. Epub 2023 Apr 3 doi: 10.3389/fpubh.2023.1151999. PMID: 37077193Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...