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

ABSTRACT:

Background

The subcortical maternal complex (SCMC) orchestrates early embryogenesis; TLE6, a core SCMC component, stabilizes the complex and regulates cytoskeletal dynamics during the oocyte-to-embryo transition. Pathogenic TLE6 variants are associated with pre-implantation arrest and infertility, but the mutational spectrum and rescue strategies remain incompletely defined. This study aims to describe a case of embryonic arrest associated with a novel homozygous TLE6 variant, elucidate its pathogenic mechanism, and evaluate an mRNA add-back rescue approach.

Materials and methods

A case of primary infertility with repeated IVF failure underwent whole-exome sequencing, followed by confirmatory Sanger sequencing performed in the proband and parents. The variant function was as

SUBMITTER: Yuan B 

PROVIDER: S-EPMC12771770 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature