A novel homozygous TSGA10 missense variant causes acephalic spermatozoa syndrome in a Pakistani family.
Khalid KhanXiangjun ZhangSobia DilIhsan KhanAhsanullah UnarJingwei YeAurang ZebMuhammad ZubairWasim ShahHuan ZhangMuzammil Ahmad KhanLimin WuBo XuHui MaZina WenQinghua ShiPublished in: Basic and clinical andrology (2024)
Altogether, our study identifies a novel TSGA10 pathogenic variant as a cause of acephalic spermatozoa syndrome in this family and provides information regarding the clinical manifestations associated with TSGA10 variants in human.