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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

Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene. [from MONDO]

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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    Clinical resources

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    Reviews

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      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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