Identification of a novel TLE6 mutation linked to embryonic arrest and limited rescue by mRNA supplementation

These findings expand the TLE6 variant spectrum and support a loss-of-function mechanism causing embryonic arrest through SCMC disruption. Acute zygotic mRNA supplementation was insufficient to restore developmental competence, indicating the need for alternative or early-stage interventions and informing genetic counseling for affected families.

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Publication Details

Journal
Frontiers in Medicine
Published
2025-12-23
DOI
https://doi.org/10.3389/fmed.2025.1716251
Primary Topic
Reproductive Biology and Fertility
Type
article
Field-Weighted Citation Impact
0.00

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article

Identification of a novel TLE6 mutation linked to embryonic arrest and limited rescue by mRNA supplementation

Junbiao Mao, J. W. Wang, Ben Yuan, Bingbing Luo et al.
Frontiers in Medicine
Reproductive Biology and Fertility
article

Identification of a novel TLE6 mutation linked to embryonic arrest and limited rescue by mRNA supplementation

Junbiao Mao, J. W. Wang, Ben Yuan, Bingbing Luo, Ziqin Lu, Xiumei Wang, Tian Xu
article en

Abstract

These findings expand the TLE6 variant spectrum and support a loss-of-function mechanism causing embryonic arrest through SCMC disruption. Acute zygotic mRNA supplementation was insufficient to restore developmental competence, indicating the need for alternative or early-stage interventions and informing genetic counseling for affected families.

Frontiers in MedicineVol. 12
Hubei Polytechnic University (CN), Central Hospital of Wuhan (CN), Hubei Academy of Agricultural Sciences (CN), Huangshi Central Hospital (CN)
Natural Science Foundation of Hubei Province, Huazhong Agricultural University
Openalex Percentile: Top 27%
Reproductive Biology and Fertility
DOIOpen Access PDFOpenAlex
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