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Oocyte maturation defect 2(OZEMA2)

MedGen UID:
903836
•Concept ID:
C4225210
•
Disease or Syndrome
Synonyms: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 2; OZEMA2
 
Gene (location): TUBB8 (10p15.3)
 
Monarch Initiative: MONDO:0021573
OMIM®: 616780

Definition

Oocyte/zygote/embryo maturation arrest-2 (OZEMA2) is characterized by female infertility due to oocyte maturation arrest with various meiotic spindle defects. Oocytes that can be fertilized result in embryos that become arrested at an early stage (Feng et al., 2016). For 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
Oocyte arrest at metaphase I
MedGen UID:
897067
•Concept ID:
C4227845
•
Cell or Molecular Dysfunction
Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Total fertilization failure after ICSI: insights into pathophysiology, diagnosis, and management through artificial oocyte activation.
Campos G, Sciorio R, Esteves SC
Hum Reprod Update 2023 Jul 5;29(4):369-394. doi: 10.1093/humupd/dmad007. PMID: 36977357
Genetic screening and analysis of TUBB8 variants in females seeking ART.
Lin T, Liu W, Han W, Tong K, Xiang Y, Liao H, Chen K, He Y, Liu D, Huang G
Reprod Biomed Online 2023 Feb;46(2):244-254. Epub 2022 Oct 17 doi: 10.1016/j.rbmo.2022.10.008. PMID: 36463079
Immunoregulation of follicular renewal, selection, POF, and menopause in vivo, vs. neo-oogenesis in vitro, POF and ovarian infertility treatment, and a clinical trial.
Bukovsky A, Caudle MR
Reprod Biol Endocrinol 2012 Nov 23;10:97. doi: 10.1186/1477-7827-10-97. PMID: 23176151Free PMC Article

Recent clinical studies

Prognosis

Rare homozygous mutation in TUBB8 associated with oocyte maturation defect-2 in a consanguineous mating family.
Xing Q, Wang R, Chen B, Li L, Pan H, Li T, Ma X, Cao Y, Wang B
J Ovarian Res 2020 Apr 21;13(1):42. doi: 10.1186/s13048-020-00637-4. PMID: 32316999Free PMC Article

Clinical prediction guides

Rare homozygous mutation in TUBB8 associated with oocyte maturation defect-2 in a consanguineous mating family.
Xing Q, Wang R, Chen B, Li L, Pan H, Li T, Ma X, Cao Y, Wang B
J Ovarian Res 2020 Apr 21;13(1):42. doi: 10.1186/s13048-020-00637-4. PMID: 32316999Free PMC Article

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    • OMIM
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    • PMC Articles
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