2. Academic Validation
  3. A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome

A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome

  • J Hum Genet. 2018 Dec;63(12):1269-1272. doi: 10.1038/s10038-018-0505-0.
Xiaoting Lou 1,  Hao Shi 1,  Shumeng Wen 1,  Yuanyuan Li 1,  Xiujuan Wei 1,  Jie Xie 1,  Lin Ma 2,  Yanling Yang 3,  Hezhi Fang 4,  Jianxin Lyu 5
Affiliations

Affiliations

  • 1 Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life sciences, Wenzhou Medical University, 325035, Wenzhou, Zhejiang, China.
  • 2 Department of Clinical Laboratory, The First Affiliated Hospital of Zhengzhou University, Key Clinical Laboratory of Henan, ProvinceZhengzhou, Henan, China.
  • 3 Department of Pediatrics, Peking University First Hospital, 100034, Beijing, China. organic.acid@126.com.
  • 4 Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life sciences, Wenzhou Medical University, 325035, Wenzhou, Zhejiang, China. FangH@wmu.edu.cn.
  • 5 Zhejiang Provincial People's Hospital, Affiliated People's Hospital of Hangzhou Medical College, 310053, Hangzhou, Zhejiang, China.
PMID: 30140060 DOI: 10.1038/s10038-018-0505-0
Abstract

Leigh syndrome is one of the most common subtypes of mitochondrial disease. Mutations in encoding genes of Oxidative Phosphorylation complexes have been frequently reported, of which, MTATP6 was one of the most frequently reported genes for Leigh syndrome. In this study, by using next-generation Sequencing targeted to MitoExome in a patient with clinical manifestations of Leigh syndrome, two missense mutations of NDUFS3 (c.418 C > T/p.R140W and c.595 C > T/p.R199W) were identified, of which c.418 C > T was novel. Functionally, the patient derived lymphoblastoid cells showed decreased amount of NDUFS3 and complex I assembly when compared with two control cells. Although NDUFS3 mutations have been related to late onset Leigh syndrome, we found that the patient carrying these two mutations developed an early onset Leigh syndrome. To our knowledge, this is the second study on patient carrying NDUFS3 mutations. In conclusion, we identified a novel Leigh syndrome causing NDUFS3 mutation and expanded the clinical spectrum caused by NDUFS3 mutations in this study.

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