Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans.

Background: The association between the variants and human infertility remains unclear, as only one homozygous missense variant of was found to be associated with oligoasthenoteratozoospermia (OAT).

Methods: Whole-exome sequencing and Sanger sequencing were employed to identify potential pathogenic variants of in infertile men. Histology, immunofluorescence, immunoblotting and ultrastructural analyses were conducted to clarify the structural and functional abnormalities of sperm in mutated patients.