DNA2 mutation causing multisystemic disorder with impaired mitochondrial DNA maintenance.
Jiayu SunWenwen SuJianwen DengYao QinZhaoxia WangYuhe LiuPublished in: Journal of human genetics (2022)
The DNA2 variant was a likely cause of MDS in this patient. These findings expand the mutational spectrum of MDS and improve our understanding of the functions of DNA2 by revealing its novel role in mtDNA maintenance.