loading page

Genomic screening for Duchenne muscular dystrophy: a retrospective study from 10,481 NICU patients based on next generation sequencing data
  • +7
  • Tiantian Xiao,
  • Bingbing Wu,
  • Yun Cao,
  • Renchao Liu,
  • Guoqiang Cheng,
  • Laishuan Wang,
  • Deyi Zhuang,
  • Zhengyan Zhao,
  • Huijun Wang,
  • Wenhao Zhou
Tiantian Xiao
Children's Hospital of Fudan University
Author Profile
Bingbing Wu
Children's Hospital of Fudan University
Author Profile
Yun Cao
Children's Hospital of Fudan University
Author Profile
Renchao Liu
Shanghai Key Laboratory of Birth Defects, Pediatrics Research Institute, Children’s Hospital of Fudan University, Shanghai
Author Profile
Guoqiang Cheng
Children's Hospital of Fudan University
Author Profile
Laishuan Wang
Children's Hospital of Fudan University
Author Profile
Deyi Zhuang
Xiamen Children’s Hospital
Author Profile
Zhengyan Zhao
The Children’s Hospital, Zhejiang University School of Medicine
Author Profile
Huijun Wang
Fudan University
Author Profile
Wenhao Zhou
Children's Hospital of Fudan University
Author Profile

Abstract

Newborn creatine kinase screening can identify patients at risk for Duchenne muscular dystrophy. However, it is unclear whether the next-generation sequencing-based screening can identify patients early and guide care. Herein, this study investigates clinical utility of next-generation sequencing-based DMD screening. A total of 19 (0.18%, 19/10481) newborns were identified with pathogenic variants of DMD gene, including 4 (21.1%, 4/19) duplications,13 (68.4%,13/19) deletions, and 2 (10.5%, 2/19) nonsense mutations. Six of them were symptomatic after regular follow up. Therapeutic strategies for these patients were modified. Two neonates died, and the remaining 11 newborns were asymptomatic at August 1, 2020. These 13 families were informed the updated genetic report and suggested for further genetic consulting. Genomic screening for DMD would identify patients who might not come to clinical attention prior to disease manifestation. Early targeted intervention of DMD have the positively impact the clinical decision and the potential to improve outcomes.