Novel DPY19L2 mutation locus causes globozoospermia

Abstract

Abstract Spermatozoa acrosome abnormalities are a rare and severe form of male infertility caused by structural abnormalities of the sperm acrosome or acrosomal enzyme abnormalities, which usually present as round-headed spermatozoa with loss of sperm insemination. Variation in the DPY19L2 gene is highly correlated with known cases of conchoidal spermatidosis, and there is extensive evidence that heterozygous variants cause spermatozoa abnormalities, although fewer cases have been reported for purely homozygous variants of the locus. In our study, we identified and clinically confirmed a single spermatozoa cytoplasmic injection combined with calcium carrier-assisted oocyte activation pregnancy in a patient with congenital spermatidosis, resulting in a live birth and transposition of the great arteries. Whole-exome testing identified and reported for the first time the DPY19L2c.63dupG (p.Arg22Alafs*66) mutant locus, which was confirmed by combining the family history of consanguineous marriages with the family lineage of exomes. a pure mutation in the DPY19L2 gene and caused sterility in all of his siblings. In summary, our study identified DPY19L2c.63dupG(p.Arg22Alafs*66) as the causative mutation site for structural abnormalities in the acrosome and may lead to severe offspring disease.