A homozygous missense mutation in TBPL2 is associated with oocyte maturation arrest and degeneration
A homozygous missense mutation in TBPL2 is associated with oocyte maturation arrest and degeneration
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TBPL2 纯合错义突变与卵母细胞成熟停滞和退化相关
DOI：
10.1111/cge.13993
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发表时间：
2021-05-13
影响因子：
3.5
通讯作者：
Zhu, Fuxi
中科院分区：
文献类型：
--
作者：
Wang, Yu;Xiang, Mingfei;Zhu, Fuxi
大多数卵母细胞成熟停滞患者的遗传原因仍然很大程度上未知。在本研究中，我们通过全外显子组测序，在来自近亲家庭的两个不育姐妹中发现了 TBPL2（TATA 盒结合蛋白样 2）中的纯合错义突变（c.895T>C；p.C299R），这两个姐妹的卵母细胞成熟停滞并发生退化。 TBPL2突变是罕见的和致病性的，并且损害了蛋白质的转录起始功能。我们的结果表明，TBPL2 突变可能与卵母细胞成熟停滞和退化导致的女性不孕有关。
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.