Supplementary Material for: Seminoma Caused by PDE11A Frameshift Variant with Multiple Abnormalities: A Case Report

Testicular germ cell tumor (TGCT) is a relatively rare malignant tumor. In addition to recognized risk factors such as cryptorchidism, the role of genetic factors has been increasingly acknowledged. We report a case of a seminoma patient presenting with multiple abnormalities, including brain dysplasia, social difficulties, and learning impairments. Subsequent exome sequencing did not detect other genetic abnormalities but identified a frameshift variant in the phosphodiesterase 11A (PDE11A) gene. Predictions from AlphaFold3 suggest that this variant may significantly affect protein function. This variant may provide a plausible explanation for the patient's multiple abnormalities as well as the development of seminoma.