Objective: Fertilization is a key event in human reproduction. The male genetic factors associated with total fertilization failure (TFF) are largely unknown. To date, only mutations in PLCZ1 have been reported as male factors that result in human fertilization failure. Here, we report a novel DNAH17 mutation that resulted in male infertility and TFF.
Methods: A male patient with a three-year history of primary infertility presented with TFF after two failed cycles of intracytoplasmic sperm injection (ICSI). Use of donor sperm resulted in a healthy baby. Peripheral blood samples were taken from the proband and his parents and analyzed using whole exome and Sanger sequencing for clinical detection of genetic mutations.
Results: Compound heterozygous variants in DNAH17 were detected: NM_173628.4: c.1048 C > T and c.3390G > A; p.Arg350* and p.Met1130Ile. The latter variant was found to be highly conserved among mammals.
Keywords: DNAH17; fertilization failures.