Male infertility is common and complex, presenting a wide range of heterogeneous phenotypes. Although about 50% of cases are estimated to have a genetic component, the underlying cause often remains undetermined. Here, from whole-exome sequencing on samples from 168 infertile men with asthenoteratozoospermia due to severe sperm flagellum, we identified homozygous ZMYND12 variants in four unrelated patients. In sperm cells from these individuals, immunofluorescence revealed altered localization of DNAH1, DNALI1, WDR66, and TTC29.
D. Dacheux, G. Martinez, C.E. Broster Reix, J. Beurois, P. Lorès, M. Tounkara, J.-W. Dupuy, D.R. Robinson, C. Loeuillet, E. Lambert, Z. Wehbe, A. Amiri-Yekta, A. Daneshipour, S.-H. Hosseini, R. Zouari, S. Fourati Ben Mustapha, L. Halouani, X. Jiang, Y. Shen, C. Liu, N. Thierry-Mieg, A. Septier, M. Bidart, V. Satre, et al.
eLife | eLife. 2023; 12: RP87698, doi: 10.7554/eLife.87698