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- Title
A homozygous missense mutation in TBPL2 is associated with oocyte maturation arrest and degeneration.
- Authors
Wang, Yu; Xiang, Mingfei; Yu, Zhaojuan; Hao, Yan; Xu, Qianhua; Kong, Shuai; Wang, Fengsong; Shi, Xuanming; Song, Gaojie; Cao, Yunxia; Huang, Lingli; Zhu, Fuxi
- Abstract
The genetic causes in most of patients with oocyte maturation arrest remain largely unknown. In this study, we identified a homozygous missense mutation (c.895T>C; p.C299R) in TBPL2 (TATA box binding protein like 2) in two infertile sisters with oocyte maturation arrest and degeneration from a consanguineous family by whole‐exome sequencing. The TBPL2 mutation is rare and pathogenic, and impaired the transcription initiation function of the protein. Our results showed that TBPL2 mutation might be associated with female infertility due to oocyte maturation arrest and degeneration.
- Subjects
MISSENSE mutation; OVUM; SOCIAL degeneration; FEMALE infertility; CARRIER proteins
- Publication
Clinical Genetics, 2021, Vol 100, Issue 3, p324
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.13993