Novel mutation leading to splice donor loss in a conserved site ofDMDgene causes Duchenne muscular dystrophy with cryptorchidism

As one of the most common congenital abnormalities in male births, cryptorchidism has been found to have a polygenic aetiology according to previous studies of common variants. However, little is known about genetic predisposition of rare variants for cryptorchidism, since rare variants have larger effective size on diseases than common variants.