DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia

oleh: Ann-Kristin Dicke, Adrian Pilatz, Margot J. Wyrwoll, Margus Punab, Christian Ruckert, Liina Nagirnaja, Kenneth I. Aston, Donald F. Conrad, Sara Di Persio, Nina Neuhaus, Daniela Fietz, Maris Laan, Birgit Stallmeyer, Frank Tüttelmann

Format: Article
Diterbitkan: Nature Portfolio 2023-03-01

Deskripsi

Analysing genetic data from 1,655 men with non-obstructive azoospermia (NOA) reveals four independent loss-of-function variants in DDX3Y, suggesting that it is a key gene in the AZFa region and should be considered in diagnostic workflows for NOA.