Novel compound heterozygous mutation in WEE2 is associated with fertilization failure: case report of an infertile woman and literature review.

ABSTRACT:

Background

Fertilization failure after intracytoplasmic sperm injection continues to affect couples and the etiology is not well-understood.

Case presentation

We characterized a couple with 2-year history of primary unexplained infertility. Three different assisted reproduction attempts (IVF + rescue ICSI, ICSI and ICSI-AOA) showed repeated fertilization failure for MII oocyte retrieval after controlled ovarian hyperstimulation. After whole-exome sequencing and sanger sequencing of the couple and their family members, variant pathogenicity was assessed using SIFT, PolyPhen2, Mutation Taster, and Human Splicing Finder software. We identified novel compound heterozygous mutations, c.1535 + 3A > G and c.946C > T (p. Leu316Phe), in WEE2 in the female proband. Trios analysis of t

SUBMITTER: Tian Y 

PROVIDER: S-EPMC7643268 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature