Homozygous missense mutation Arg207Cys in the WEE2 gene causes female infertility and fertilization failure.

ABSTRACT: PURPOSE:To investigate a novel mutation in the WEE2 gene in a female patient with primary infertility and fertilization failure. METHODS:Sanger sequencing was used to detect mutations in WEE2. The pathogenicity of the identified variant and its possible effects on the WEE2 protein were evaluated with in silico tools and molecular modeling. We used the calcium ionophore A23187 as a chemical activator of oocytes after intracytoplasmic sperm injection (ICSI). RESULTS:We identified a consanguineous family with a novel homozygous missense mutation in WEE2 (c.619C>T [p.R207C]). Based on preliminary bioinformatics analysis, we speculate that the novel homozygous missense mutation is pathogenic. ICSI combined with assisted oocyte activation (ICSI-AOA) did not overcome fertilization failure in this patient with WEE2 mutation. CONCLUSIONS:We identified a novel mutation in WEE2 (c.619C>T [p.R207C]) in a female patient with fertilization failure after ICSI, and we provide evidence that this novel homozygous missense mutation can cause fertilization failure.

SUBMITTER: Yang X 

PROVIDER: S-EPMC6541719 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature