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.
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20 July 2017
An erratum to this article has been published.
12 February 2019
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The post code for the fourth address in the affiliation should be 050031.
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Three items are missing in the first row of Table 1. The correct form of the first row is as follows:
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The second .55%. in the fourth paragraph of DISCUSSION should be 50%.
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03 January 2019
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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.
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Fang, F., Liu, Z., Fang, H. et al. The clinical and genetic characteristics in children with mitochondrial disease in China. Sci. China Life Sci. 60, 746–757 (2017). https://doi.org/10.1007/s11427-017-9080-y
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DOI: https://doi.org/10.1007/s11427-017-9080-y