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

It is vital important to produce functional sperms and oocytes for animals with sexual reproduction, including humans. Meiosis is a common mechanism involved in gametogenesis. However, few meiosis genes were reported to result in disorders of both spermatogenesis and oogenesis in a family. In this manuscript, Tan et al. described two siblings with severe infertility features due to meiotic arrest from a consanguineous Chinese family. The brother suffered from non-obstructive azoospermia (NOA), and the sister was diagnosed with premature ovarian insufficiency (POI). By whole-exome sequencing, they identified a DMC1 mutation that might be responsible for the infertility of both genders. This unprecedented finding provides an example that a germline mutation in a meiosis-related gene can cause both NOA in males and POI in females. (By Dr. Yue-Qiu Tan, )