De novo mutations in idiopathic male infertility – a pilot study.

Are de novo mutations in the human genome associated with male infertility?

We identified de novo mutations in five candidate genes: SEMA5A, NEURL4, BRD2, CD1D, and CD63.

Epidemiological and genetic studies have consistently indicated contribution of genetic factors to the etiology of male infertility, suggesting that more than 1500 genes are involved in spermatogenesis.