First Infertile Case with CSTF2T Gene Mutation

Male infertility is multifactorial and presents with heterogeneous phenotypic features. Genetic factors are responsible for up to 15% of the male infertility cases. Loss of the gene in male mice results in infertility. No disease-associated mutations have been described for this gene in infertile men. Here, we report a patient diagnosed with infertility in whom a homozygous nonsense mutation in the gene was detected by clinical exome sequencing. This case is the first description of an infertile patient who has a homozygous mutation.