%0 Case Reports
%T First Infertile Case with CSTF2TGene Mutation.
%A Gorukmez O
%A Gorukmez O
%J Mol Syndromol
%V 11
%N 4
%D Nov 2020
%M 33224017
%F 1.494
%R 10.1159/000509686
%X 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.