Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player

Abstract

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Bi-allelic mutation in Fsip1 impairs acrosome vesicle formation and attenuates flagellogenesis in mice

“…Globozoospermia is a severe form of monomorphic teratozoospermia, characterized by abnormally headed spermatozoa, lack of acrosome, and flagellum defects [ 8 ]. It is responsible for less than 0.1% of male infertility [ 9 ].…”

Deletion of the Spata3 Gene Induces Sperm Alterations and In Vitro Hypofertility in Mice

“…For example, globozoospermia, a very rare form of male infertility characterized by round-shaped sperm heads that present a complete lack or an abnormal setup of their acrosome, can be explained by alterations of the DPY19L2 gene in about 60% of reported cases [2,3]. Some rare case reports have also revealed mutations of the SPATA16, ZPBP1 and PICK1 genes [4][5][6].…”

Editorial for the special issue on the molecular genetics of male infertility

“…In this Special Issue, two reviews deal with qualitative alterations of spermatogenesis: one concerns sperm motility due to tail anomalies (asthenozoospermia) and the other focuses on a specific sperm head defect (globozoospermia) affecting sperm fertilizing ability (Touré et al 2021;Celse et al 2021). The spermatozoan is a unique cell with many highly specialized structural features.…”

“…The second review dealing with qualitative defects of spermatogenesis focuses on globozoospermia, an autosomal recessive rare disease associated with the production of round-headed spermatozoa, lacking acrosin (Celse et al 2021). The authors give a comprehensive overview of the literature and in addition present their original data on a genetic investigation performed in a large group of globozoospermic patients.…”

“…The study reports a positive correlation between the percentage of globozoospermic sperm in the ejaculate and the likelihood of finding a DPY19L deletion(s) or other mutations. The diagnostic impact of other known candidate genes is marginal but ongoing exome studies will likely identify novel genetic factors to be tested in DPY19L2negative subjects (Celse et al 2021).…”