title: SYCP3 mutation may not be associated with recurrent miscarriage caused by aneuploidy.
abstract: 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.
authors.affiliation: Department of Obstetrics & Gynecology, Nagoya City University Graduate School of Medicine, Mizuho-ku, Nagoya 467-8601, Japan.
authors.forename: Eita
authors.initials: E
authors.lastname: Mizutani
authors.forename: Nobuhiro
authors.initials: N
authors.lastname: Suzumori
authors.forename: Yasuhiko
authors.initials: Y
authors.lastname: Ozaki
authors.forename: Kumiko
authors.initials: K
authors.lastname: Oseto
authors.forename: Chisato
authors.initials: C
authors.lastname: Yamada-Namikawa
authors.forename: Makoto
authors.initials: M
authors.lastname: Nakanishi
authors.forename: Mayumi
authors.initials: M
authors.lastname: Sugiura-Ogasawara
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D000782:Aneuploidy; D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D005260:Female; D006801:Humans; D007621:Karyotyping; D009687:Nuclear Proteins / Q000235:genetics*; D017354:Point Mutation
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C490060:SYCP3 protein, human