Background: SYCP3 mutations have been shown to generate an aberrant synaptonemal complex in a dominant-negative manner and to contribute to abnormal chromosomal behavior that might lead to recurrent miscarriage. We examined whether SYCP3 mutation is associated with recurrent miscarriage caused by embryonic aneuploidy.
Methods: The SYCP3 657T>C mutation was examined using PCR and sequencing in 101 patients with a history of three or more unexplained recurrent miscarriages and 82 fertile controls with no history of miscarriage. The embryonic karyotype in the aborted conceptus was analyzed.
Results: The 657T>C mutation of SYCP3 was identified in one patient with a history of six recurrent miscarriages with embryonic euploidy and one fertile woman in the control group. Patients with abnormal and normal chromosome were found to repeat miscarriage with abnormal and normal chromosome, respectively.
Conclusions: The 657T>C mutation of SYCP3 may not be associated with recurrent miscarriage caused by aneuploidy. We found no clinical significance of routine examination of the SYCP3 mutation because only one benign mutation was ascertained in 101 patients.