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Identification of Novel Biallelic TLE6 Variants in Female Infertility With Preimplantation Embryonic Lethality
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 preimplantation embryonic lethality. However, the incidence of TLE6 variants in patients with preimplantation embry...
Autores principales: | , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8226231/ https://www.ncbi.nlm.nih.gov/pubmed/34178031 http://dx.doi.org/10.3389/fgene.2021.666136 |
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author | Zhang, Manyu Liu, Chunyu Chen, Beili Lv, Mingrong Zou, Huijuan Liu, Yajing Gao, Yang Wang, Tianjuan Xing, Qiong Zhu, Yutong Wu, Huan Zhang, Zhiguo Zhou, Ping Wei, Zhaolian He, Xiaojin Xu, Yuping Cao, Yunxia |
author_facet | Zhang, Manyu Liu, Chunyu Chen, Beili Lv, Mingrong Zou, Huijuan Liu, Yajing Gao, Yang Wang, Tianjuan Xing, Qiong Zhu, Yutong Wu, Huan Zhang, Zhiguo Zhou, Ping Wei, Zhaolian He, Xiaojin Xu, Yuping Cao, Yunxia |
author_sort | Zhang, Manyu |
collection | PubMed |
description | 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 preimplantation embryonic lethality. However, the incidence of TLE6 variants in patients with preimplantation embryonic lethality is not fully understood. In this study, we identified four patients carrying novel biallelic TLE6 variants in a cohort of 28 patients with preimplantation embryonic lethality by whole-exome sequencing and bioinformatics analysis, accounting for 14.29% (4/28) of the cohort. Immunofluorescence showed that the TLE6 levels in oocytes from patients were much lower than in normal control oocytes, suggesting that the variants result in the lower expression of the TLE6 protein in oocytes. In addition, a retrospective analysis showed that the four patients underwent a total of nine failures of in vitro fertilization and intracytoplasmic sperm injection attempts, and one of them became pregnant on the first attempt using donated oocytes. Our study extends the genetic spectrum of female infertility caused by variants in TLE6 and further confirms previously reported findings that TLE6 plays an essential role in early embryonic development. In such case, oocyte donation may be the preferred treatment. |
format | Online Article Text |
id | pubmed-8226231 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-82262312021-06-26 Identification of Novel Biallelic TLE6 Variants in Female Infertility With Preimplantation Embryonic Lethality Zhang, Manyu Liu, Chunyu Chen, Beili Lv, Mingrong Zou, Huijuan Liu, Yajing Gao, Yang Wang, Tianjuan Xing, Qiong Zhu, Yutong Wu, Huan Zhang, Zhiguo Zhou, Ping Wei, Zhaolian He, Xiaojin Xu, Yuping Cao, Yunxia Front Genet Genetics 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 preimplantation embryonic lethality. However, the incidence of TLE6 variants in patients with preimplantation embryonic lethality is not fully understood. In this study, we identified four patients carrying novel biallelic TLE6 variants in a cohort of 28 patients with preimplantation embryonic lethality by whole-exome sequencing and bioinformatics analysis, accounting for 14.29% (4/28) of the cohort. Immunofluorescence showed that the TLE6 levels in oocytes from patients were much lower than in normal control oocytes, suggesting that the variants result in the lower expression of the TLE6 protein in oocytes. In addition, a retrospective analysis showed that the four patients underwent a total of nine failures of in vitro fertilization and intracytoplasmic sperm injection attempts, and one of them became pregnant on the first attempt using donated oocytes. Our study extends the genetic spectrum of female infertility caused by variants in TLE6 and further confirms previously reported findings that TLE6 plays an essential role in early embryonic development. In such case, oocyte donation may be the preferred treatment. Frontiers Media S.A. 2021-06-11 /pmc/articles/PMC8226231/ /pubmed/34178031 http://dx.doi.org/10.3389/fgene.2021.666136 Text en Copyright © 2021 Zhang, Liu, Chen, Lv, Zou, Liu, Gao, Wang, Xing, Zhu, Wu, Zhang, Zhou, Wei, He, Xu and Cao. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Genetics Zhang, Manyu Liu, Chunyu Chen, Beili Lv, Mingrong Zou, Huijuan Liu, Yajing Gao, Yang Wang, Tianjuan Xing, Qiong Zhu, Yutong Wu, Huan Zhang, Zhiguo Zhou, Ping Wei, Zhaolian He, Xiaojin Xu, Yuping Cao, Yunxia Identification of Novel Biallelic TLE6 Variants in Female Infertility With Preimplantation Embryonic Lethality |
title | Identification of Novel Biallelic TLE6 Variants in Female Infertility With Preimplantation Embryonic Lethality |
title_full | Identification of Novel Biallelic TLE6 Variants in Female Infertility With Preimplantation Embryonic Lethality |
title_fullStr | Identification of Novel Biallelic TLE6 Variants in Female Infertility With Preimplantation Embryonic Lethality |
title_full_unstemmed | Identification of Novel Biallelic TLE6 Variants in Female Infertility With Preimplantation Embryonic Lethality |
title_short | Identification of Novel Biallelic TLE6 Variants in Female Infertility With Preimplantation Embryonic Lethality |
title_sort | identification of novel biallelic tle6 variants in female infertility with preimplantation embryonic lethality |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8226231/ https://www.ncbi.nlm.nih.gov/pubmed/34178031 http://dx.doi.org/10.3389/fgene.2021.666136 |
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