{Reference Type}: Case Reports
{Title}: First Infertile Case with CSTF2TGene Mutation.
{Author}: Gorukmez O;Gorukmez O;
{Journal}: Mol Syndromol
{Volume}: 11
{Issue}: 4
{Year}: Nov 2020
{Factor}: 1.494
{DOI}: 10.1159/000509686
{Abstract}: 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 Cstf2t 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 CSTF2T gene was detected by clinical exome sequencing. This case is the first description of an infertile patient who has a homozygous CSTF2T mutation.