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

• Yanjun Wang,
• Ling Hang,
• Weihua Shou,
• Cuifen Li,
• Fangling Dong,
• Xingxing Feng,
• Ruohong Jin,
• Bin Li,
• Shufang Xiao

Affiliations

Yanjun Wang

Pediatric Intensive Care Unit, Kunming Children’s Hospital, Children’s Hospital Affiliated to Kunming Medical University, Kunming, China

Ling Hang

Pediatric Intensive Care Unit, Kunming Children’s Hospital, Children’s Hospital Affiliated to Kunming Medical University, Kunming, China

Weihua Shou

Kunming Key Laboratory of Children Infection and Immunity, Yunnan Key Laboratory of Children’s Major Disease Research, Yunnan Medical Center for Pediatric Diseases, Yunnan Institute of Pediatrics, Kunming Children’s Hospital, Kunming, China

Cuifen Li

Pediatric Intensive Care Unit, Kunming Children’s Hospital, Children’s Hospital Affiliated to Kunming Medical University, Kunming, China

Fangling Dong

Pediatric Intensive Care Unit, Kunming Children’s Hospital, Children’s Hospital Affiliated to Kunming Medical University, Kunming, China

Xingxing Feng

Department of Clinical Laboratory, Kunming Children’s Hospital, Children’s Hospital Affiliated to Kunming Medical University, Kunming, China

Ruohong Jin

Pediatric Intensive Care Unit, Kunming Children’s Hospital, Children’s Hospital Affiliated to Kunming Medical University, Kunming, China

Bin Li

Pediatric Intensive Care Unit, Kunming Children’s Hospital, Children’s Hospital Affiliated to Kunming Medical University, Kunming, China

Shufang Xiao

Pediatric Intensive Care Unit, Kunming Children’s Hospital, Children’s Hospital Affiliated to Kunming Medical University, Kunming, China