Two compound frame-shift mutations in succinate dehydrogenase gene of a Chinese boy with encephalopathy - PubMed (original) (raw)
Case Reports
doi: 10.1016/j.braindev.2013.06.003. Epub 2013 Jul 9.
Tong-Fei Wu 2, Yu-Peng Liu 2, Qiao Wang 2, Xi-Yuan Li 2, Yuan Ding 2, Jin-Qing Song 2, Xiu-Yu Shi 1, Wei-Na Zhang 1, Meng Zhao 1, Ling-Yan Hu 1, Jun Ju 1, Zhi-Long Wang 3, Yan-Ling Yang 4, Li-Ping Zou 5
Affiliations
- PMID: 23849264
- DOI: 10.1016/j.braindev.2013.06.003
Case Reports
Two compound frame-shift mutations in succinate dehydrogenase gene of a Chinese boy with encephalopathy
Yan-Yan Ma et al. Brain Dev. 2014 May.
Abstract
Objective: To investigate respiratory chain complex II deficiency resulted from mutation in succinate dehydrogenase gene (SDH) encoding complex II subunits in China.
Methods: An 11-year-old boy was admitted to our hospital. He had a history of progressive psychomotor regression and weakness since the age of 4years. His cranial magnetic resonance imaging revealed focal, bilaterally symmetrical lesions in the basal ganglia and thalamus, indicating mitochondrial encephalopathy. The activities of mitochondrial respiratory chain enzymes I-V in peripheral leukocytes were determined via spectrophotometry. Mitochondrial DNA and the succinate dehydrogenase A (SDHA) gene were analyzed by direct sequencing.
Results: Complex II activity in the leukocytes had decreased to 33.07nmol/min/mg mitochondrial protein (normal control 71.8±12.9); the activities of complexes I, III, IV and V were normal. The entire sequence of the mitochondrial DNA was normal. The SDHA gene showed two heterozygous frame-shift mutations: c.G117G/del in exon 2 and c.T220T/insT in exon 3, which resulted in stop codons at residues 56 and 81, respectively.
Conclusions: We have described the first Chinese case of mitochondrial respiratory chain complex II deficiency, which was diagnosed using enzyme assays and gene analysis. Two novel, compound, frame-shift mutations, c.G117G/del in exon 2 and c.T220T/insT in exon 3 of the SDHA gene, were found in our patient.
Keywords: Frame-shift mutation; Respiratory chain complex II deficiency; SDHA gene.
Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
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