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Novel mutations in genes encoding subcortical maternal complex proteins may cause human embryonic developmental arrest.

Reproductive biomedicine online - 1 Jun 2018

Wang Xueqian, Song Di, Mykytenko Dmytro, Kuang Yanping, Lv Qifeng, Li Bin, Chen Biaobang, Mao Xiaoyan, Xu Yao, Zukin Valery, Mazur Pavlo, Mu Jian, Yan Zheng, Zhou Zhou, Li Qiaoli, Liu Suying, Jin Li, He Lin, Sang Qing, Sun Zhaogui, Dong Xi, Wang Lei

Abstract excerpt

Successful human reproduction initiates from normal gamete formation, fertilization and early embryonic development. Abnormalities in any of these steps will lead to infertility. Many infertile patients undergo several failures of IVF and intracytoplasmic sperm injection (ICSI) cycles, and embryonic developmental arrest is a common phenotype in cases of recurrent failure of IVF/ICSI attempts. However, the genetic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29606347
DOI: 10.1016/j.rbmo.2018.03.009

Genes

PADI6
TLE6

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Genetic variants underlying developmental arrests in human preimplantation embryosSemantic proximity Read ↗

A complex heterozygous mutation in PADI6 causes early embryo arrest: A case reportSemantic proximity Read ↗

Variants in NLRP2 and ZFP36L2, non-core components of the human subcortical maternal complex, cause female infertility with embryonic development arrestSemantic proximity Read ↗

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