Clinical geneticsMaleHumansInfertilitySpermatozoaGenetic Association Studies
Discovery of a Pathogenic NME5 Variant Underlying Acephalic Spermatozoa Syndrome: Unraveling a Novel Genotype-Phenotype Association in Male Infertility.
Yunchuan Tian, Yingteng Zhang, Xinyao Tang, Chanjuan Zhao, Xiaohui Jiang, Gan Shen, Xiang Wang, Chuan Jiang, Tiechao Ruan, Jun Ma, Li Duan, Ying Shen
Published: 202610.1111/cge.70049
Abstract
Acephalic spermatozoa syndrome (ASS) is a severe form of male infertility, but its genetic etiology remains largely unclear. In this study, we identified a novel homozygous frameshift variant in NME5 (c.163delA, p.Ser55Valfs*16) in an infertile man w…
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