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Science China Life Sciences

, Volume 60, Issue 7, pp 746–757 | Cite as

The clinical and genetic characteristics in children with mitochondrial disease in China

  • Fang Fang
  • Zhimei Liu
  • Hezhi Fang
  • Jian Wu
  • Danmin Shen
  • Suzhen Sun
  • Changhong Ding
  • Tongli Han
  • Yun Wu
  • Junlan Lv
  • Lei Yang
  • Shufang Li
  • Jianxin Lv
  • Ying ShenEmail author
Research Paper

Abstract

Mitochondrial disease was a clinically and genetically heterogeneous group of diseases, thus the diagnosis was very difficult to clinicians. Our objective was to analyze clinical and genetic characteristics of children with mitochondrial disease in China. We tested 141 candidate patients who have been suspected of mitochondrial disorders by using targeted next-generation sequencing (NGS), and summarized the clinical and genetic data of gene confirmed cases from Neurology Department, Beijing Children’s Hospital, Capital Medical University from October 2012 to January 2015. In our study, 40 cases of gene confirmed mitochondrial disease including eight kinds of mitochondrial disease, among which Leigh syndrome was identified to be the most common type, followed by mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). The age-of-onset varies among mitochondrial disease, but early onset was common. All of 40 cases were gene confirmed, among which 25 cases (62.5%) with mitochondrial DNA (mtDNA) mutation, and 15 cases (37.5%) with nuclear DNA (nDNA) mutation. M.3243A>G (n=7) accounts for a large proportion of mtDNA mutation. The nDNA mutations include SURF1 (n=7), PDHA1 (n=2), and NDUFV1, NDUFAF6, SUCLA2, SUCLG1, RRM2B, and C12orf65, respectively.

Keywords

mitochondrial disease targeted next generation sequencing clinical features gene 

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Notes

Acknowledgements

The authors greatly appreciate the cooperation of all the patients and their families, and are grateful to MyGenomics and SinoPath for their technical support and services.

Supplementary material

11427_2017_9080_MOESM1_ESM.zip (7.9 mb)
Supplementary material, approximately 7.89 MB.

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Copyright information

© Science China Press and Springer-Verlag GmbH Germany 2017

Authors and Affiliations

  • Fang Fang
    • 1
  • Zhimei Liu
    • 1
  • Hezhi Fang
    • 2
  • Jian Wu
    • 3
  • Danmin Shen
    • 1
  • Suzhen Sun
    • 4
  • Changhong Ding
    • 1
  • Tongli Han
    • 1
  • Yun Wu
    • 1
  • Junlan Lv
    • 1
  • Lei Yang
    • 1
  • Shufang Li
    • 1
  • Jianxin Lv
    • 2
  • Ying Shen
    • 1
    Email author
  1. 1.Department of Neurology, Beijing Children’s HospitalCapital Medical University, National Center for Children’s HealthBeijingChina
  2. 2.Inspection Medical SchoolWenzhou Medical CollegeWenzhouChina
  3. 3.Translational Medical CenterThe General Hospital of the Chinese People’s Liberation ArmyBeijingChina
  4. 4.Department of Neurology, Children’s Hospital of Hebei ProvinceHebei Medical UniversityShijiazhuangChina

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