[Analysis of a case with oocyte maturation disorder caused by a heterozygous c.728C>T (p.P243L) missense variant of TUBB8 gene and literature review].
The heterozygous c.728C>T (p.P243L) missense variant of the TUBB8 gene probably underlay the oocyte maturation disorder in the proband, which may be either autosomal dominant or autosomal recessive. For probands with oocyte maturation disorders caused by the heterozygous c.728C>T variant of the TUBB8 gene, oocyte donation may be considered.
Authors
- Bo Yan (ORCID: https://orcid.org/0000-0003-0188-1113)
- Wei Jiang (ORCID: https://orcid.org/0000-0002-0943-3705)
- Chuan Zhang (ORCID: https://orcid.org/0000-0002-9311-0799)
- Zhiqiang Wang (ORCID: https://orcid.org/0000-0002-5839-743X)
- Jinwei Yang
- Yali Ni
Institutions
- Gansu Provincial Maternal and Child Health Hospital (CN)
Publication Details
- Journal
- PubMed
- Published
- 2025-08-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20241023-00553
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00