Abstract
Male infertility is a global issue and many of the cases of male infertility have unknown causes. Genetic mutations may be a causative factor in a significant number of idiopathic cases. We conducted Whole Exome Sequencing (WES) analysis in men undergoing assisted conception and identified a genetic mutation in the β-defensin 128 (DEFB128) gene. The DEFB128 gene is explicitly expressed in the male reproductive tract, where it forms part of the sperm glycocalyx and protects sperm cells in the female reproductive tract.
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