Sequencing data of SYCP2.zip

Unexplained infertility affects 2-3% of reproductive-aged couples. Male factors contribute to approximately half of all infertility cases, and approximately 15% of these cases are predicted to have a genetic etiology. With the wide application of whole exome sequencing (WES), an increasing number of genetic variants associated with male infertility have been identified. In this study, we identified a novel heterozygous splice variant in SYCP2(c.2600+5G>C) in a male infertility patient inherited from his phenotypically normal mother. SYCP2 encodes a protein critical for the synapsis of homologous chromosomes during meiosis I, and its disruption can impair spermatogenesis. A mini-gene splicing assay confirmed that this splicing variant impacted alternative splicing and that the stop codon appeared early, which was very likely to result in the loss of function of the protein and lead to the occurrence of male infertility. Our findings suggested that the c.2600+5G>C variation in SYCP2 might be the genetic etiology for male infertility in this pedigree, expanding the known genotype spectrum of male infertility and providing new etiological information for male infertility.