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

ABSTRACT:

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.

Methods

Infertile patients with recurrent IVF/ICSI failure from Shanghai Ji Ai Genetics & IVF Institute and the Ninth Hospital affiliated with Shanghai Jiao Tong University were recruited. Genomic DNA samples were extracted from their peripheral blood. Whole-exome sequencing and Sanger validation were performed to identify candidate variants.

Results

We identified novel transducin-like enhancer of split 6 (TLE6) gene mutations in three patients with recurrent IVF/ICSI failure. One patient carried a homozygous missense mutation (c.1226G>A; p.Arg409Gln) with subsequent fertilizati

SUBMITTER: Lin J 

PROVIDER: S-EPMC7056779 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature