Expanding the genetic and phenotypic spectrum of the subcortical maternal complex genes in recurrent preimplantation embryonic arrest
Expanding the genetic and phenotypic spectrum of the subcortical maternal complex genes in recurrent preimplantation embryonic arrest
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DOI：
10.1111/cge.13858
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发表时间：
2020-10-14
影响因子：
3.5
通讯作者：
Lin, Ge
中科院分区：
文献类型：
--
作者：
Zheng, Wei;Hu, Huiling;Lin, Ge
The subcortical maternal complex (SCMC) is an oocyte-to-embryo-specific maternal functional module. Some variants of SCMC genes that contribute to preimplantation embryonic arrest have been identified. However, more novel variants should be identified to broaden the genetic and phenotypic spectrum of SCMC genes and establish their roles in embryonic development. We identified 13 novel variants in the SCMC genes,TLE6,NLRP5,NLRP2, andPADI6, from 10 of a total of 50 infertile females with recurrent preimplantation embryonic arrest. Six variants inTLE6were found in five patients with embryonic arrest, accompanied by direct cleavage and severe fragmentation at the cleavage stage. Three patients carriedNLRP5variants, and one patient each who carriedNLRP2andPADI6variants had subsequent poor or failed fertilization and cleavage arrest with a relatively lower ratio of severely fragmented embryos. Our findings expand the genetic and phenotypic spectrum of SCMC genes associated with human embryogenesis and might help lay the foundation for the genetic diagnosis of female infertility.
