Analysis of SYCP3 encoding synaptonemal complex protein 3 in human aneuploidies

• Published in: Archives of gynecology and obstetrics Vol. 288; no. 5; pp. 1153 - 1158
• Main Authors: Roos, Andreas, von Kaisenberg, Constantin S., Eggermann, Thomas, Schwanitz, Gesa, Löffler, Christine, Weise, Anja, Mrasek, Kristin, Junge, Annelore, Caliebe, Almuth, Belitz, Britta, Kautza, Monika, Schüler, Herdit, Zerres, Klaus, Heidemann, Simone
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01-11-2013; Springer Nature B.V
• Subjects: Abortion, Habitual - genetics; Adult; Amniotic Fluid - cytology; Aneuploidy; Chorionic Villi - chemistry; DNA - analysis; DNA Mutational Analysis; Endocrinology; Female; Fetus - chemistry; Fetuses; Genetic Predisposition to Disease - genetics; Gynecology; Human Genetics; Humans; Karyotype; Medicine; Medicine & Public Health; Mutation; Nuclear Proteins - genetics; Obstetrics/Perinatology/Midwifery; Pregnancy; Reproductive Medicine; Young Adult; Synaptonemal complex; Aneuploidy; Miscarriage; gene; Infertility
• ISSN: 0932-0067; 1432-0711
• DOI: 10.1007/s00404-013-2861-5

Objectives
To test the hypothesis that mutations of
SYCP3
encoding synaptonemal complex protein 3, result in increased frequency of aneuploidies in humans.
Methods
Mutation analysis of the PCR-amplified 8 coding exons and exon–intron boundaries of the
SYCP3
gene was done by direct sequencing of DNA isolated from 35 aneuploid fetuses of women having a potentially increased likelihood for an underlying genetic predisposition for chromosomal non-disjunction.
Results
Based on the results of conventional karyotyping, the 35 aneuploid fetuses of 33 women were divided into separate groups: 9 aneuploid conceptuses of couples with recurrent aneuploid conceptions (4 of the women 35 years or younger), 12 conceptuses with double/multiple aneuploidies (5 of the women 35 years or younger), and 14 conceptuses with single aneuploidies of women younger than 35 years (8 trisomies and 6 monosomies). No pathogenic mutations in the
SYCP3
coding exons and the immediately flanking intronic sequences were found.
Conclusions
Under the assumption that genetic predisposition for chromosomal non-disjunction leading to aneuploidy is most likely polygenic in nature, our data suggest that
SYCP3
mutations are not one of the common causes in humans.