Case Report: A novel RRM2B variant in a Chinese infant with mitochondrial DNA depletion syndrome and collective analyses of RRM2B variants for disease etiology

• Main Authors: Yanjun Wang (Author), Ling Hang (Author), Weihua Shou (Author), Cuifen Li (Author), Fangling Dong (Author), Xingxing Feng (Author), Ruohong Jin (Author), Bin Li (Author), Shufang Xiao (Author)
• Format: Book
• Published: Frontiers Media S.A., 2024-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

BackgroundThere are few reports of infantile mitochondrial DNA depletion syndrome (MDDS) caused by variants in RRM2B and the correlation between genotype and phenotype has rarely been analyzed in detail. This study investigated an infantile patient with MDDS, from clinical characteristics to genetic...