<i>DMC1</i> mutation that causes human non-obstructive azoospermia and premature ovarian insufficiency identified by whole-exome sequencing

Abstract

To the best of our knowledge, this is the first report identifying <i>DMC1</i> as the causative gene for human NOA and POI. Furthermore, our pedigree analysis shows an autosomal recessive mode of inheritance for NOA and POI caused by <i>DMC1</i> in this family.