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

ABSTRACT:

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 component of a subcortical maternal complex which plays a critical role in early embryonic development.

Methods

The patient had been diagnosed with primary infertility for 6 years and had undergone multiple failed in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) cycles. Genomic DNA samples were extracted from her parents' peripheral blood as well as hers. Whole-exome sequencing and Sanger validation were performed to identify candidate variants.

Results

We identified a novel transducin-like enhancer of split 6 (TLE6) gene mutations in the female patient with recurrent IVF/I

SUBMITTER: Mao B 

PROVIDER: S-EPMC8404233 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature