Two novel mutations in PADI6 and TLE6 genes cause female infertility due to arrest in embryonic development

J Liu, Z Tan, J He, T Jin, Y Han, L Hu… - Journal of Assisted …, 2021 - Springer
Purpose This study aims to identify genetic causes of female infertility associated with
recurrent failure of assisted reproductive technology (ART) characterized by embryonic …

[PDF][PDF] Mutations in PADI6 cause female infertility characterized by early embryonic arrest

Y Xu, Y Shi, J Fu, M Yu, R Feng, Q Sang… - The American Journal of …, 2016 - cell.com
Early embryonic arrest is one of the major causes of female infertility. However, because of
difficulties in phenotypic evaluation, genetic determinants of human early embryonic arrest …

A novel homozygous mutation in the PADI6 gene causes early embryo arrest

X Wang, H Zhu, Y He, J Zeng, J Zhao, Q Xia, L Wu… - Reproductive …, 2022 - Springer
Background It has been proved that mutations in the PADI6 gene can cause early embryo
arrest. This study describes a newly discovered mutation in PADI6 that expands the genetic …

New biallelic mutations in PADI6 cause recurrent preimplantation embryonic arrest characterized by direct cleavage

W Zheng, L Chen, J Dai, C Dai, J Guo, C Lu… - Journal of Assisted …, 2020 - Springer
Purpose To investigate the pathogenesis of the recurrent preimplantation embryonic arrest
characterized by direct cleavage. Methods Two affected individuals underwent time-lapse …

Expanding the genetic and phenotypic spectrum of female infertility caused by TLE6 mutations

J Lin, H Xu, B Chen, W Wang, L Wang, X Sun… - Journal of assisted …, 2020 - Springer
Purpose The present study was intended to identify genetic causes of infertile patients with
recurrent failure of in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) attempts …

A novel TLE6 mutation, c.541+1G>A, identified using whole‐exome sequencing in a Chinese family with female infertility

B Mao, X Jia, H Liu, X Xu, X Zhao… - … Genetics & Genomic …, 2021 - Wiley Online Library
Background Oocytes have a lot of maternal RNAs and proteins, which are used by the early
embryo before zygotic genome activation. Transducin‐like enhancer of split 6 (TLE6) is a …

Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles

JH Qian, NMP Nguyen, M Rezaei, B Huang… - European Journal of …, 2018 - nature.com
Recurrent hydatidiform moles (RHM) are aberrant human pregnancies characterized by
absence of, or abnormal, embryonic development, hydropic degeneration of chorionic villi …

The human knockout phenotype of PADI6 is female sterility caused by cleavage failure of their fertilized eggs.

S Maddirevula, S Coskun, K Awartani… - Clinical …, 2017 - search.ebscohost.com
The article discusses the identification of a human knockout phenotype caused by PAD16
homozygous inactivation. Particular focus is given to the intracytoplasmic sperm injection …

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

X Wang, D Song, D Mykytenko, Y Kuang, Q Lv… - Reproductive …, 2018 - Elsevier
Successful human reproduction initiates from normal gamete formation, fertilization and
early embryonic development. Abnormalities in any of these steps will lead to infertility …

Identification of Novel Biallelic TLE6 Variants in Female Infertility With Preimplantation Embryonic Lethality

M Zhang, C Liu, B Chen, M Lv, H Zou, Y Liu… - Frontiers in …, 2021 - frontiersin.org
Preimplantation embryonic lethality is a rare cause of primary female infertility. It has been
reported that variants in the transducin-like enhancer of split 6 (TLE6) gene can lead to …