The team of the Institute of Reproductive Genetics from the University of Münster, Germany, recently reported a novel cause of male infertility: mutations of the M1AP gene have been identified in four patients from Münster, five members of a family from Turkey, two cases from Portugal, and one each from Gießen, Nimwegen and Newcastle, among over 2000 infertile men.
The study – led by prof. Frank Tüttelmann, Dr Margot Wyrwoll and Dr. Corinna Friedrich and published in the American Journal of Human Genetics – shows that patients with this mutation most commonly have non-obstructive azoospermia, but occasionally spermatids and rarely a few spermatozoa in the semen were observed.
M. J. Wyrwoll et al. (2020): Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility. American Journal of Human Genetics; DOI: 10.1016/j.ajhg.2020.06.010