SUCLG1 mutations and mitochondrial encephalomyopathy: a case study and review of the literature
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ORIGINAL ARTICLE
SUCLG1 mutations and mitochondrial encephalomyopathy: a case study and review of the literature Samira Molaei Ramsheh1 · Maryam Erfanian Omidvar2 · Maryam Tabasinezhad3 · Behnam Alipoor4 · Tayyeb Ali Salmani1 · Hamid Ghaedi1 Received: 22 April 2020 / Accepted: 11 November 2020 © Springer Nature B.V. 2020
Abstract The mitochondrial encephalomyopathies represent a clinically heterogeneous group of neurodegenerative disorders. The clinical phenotype of patients could be explained by mutations of mitochondria-related genes, notably SUCLG1 and SUCLA2. Here, we presented a 5-year-old boy with clinical features of mitochondrial encephalomyopathy from Iran. Also, a systematic review was performed to explore the involvement of SUCLG1 mutations in published mitochondrial encephalomyopathies cases. Genotyping was performed by implementing whole-exome sequencing. Moreover, quantification of the mtDNA content was performed by real-time qPCR. We identified a novel, homozygote missense variant chr2: 84676796 A > T (hg19) in the SUCLG1 gene. This mutation substitutes Cys with Ser at the 60-position of the SUCLG1 protein. Furthermore, the insilico analysis revealed that the mutated position in the genome is well conserved in mammalians, that implies mutation in this residue would possibly result in phenotypic consequences. Here, we identified a novel, homozygote missense variant chr2: 84676796 A > T in the SUCLG1 gene. Using a range of experimental and in silico analysis, we found that the mutation might explain the observed phenotype in the family. Keywords Mitochondrial encephalopathy · SUCLG1 · Mutation · Whole-exome sequencing
Introduction The mitochondrial encephalomyopathies are characterized as a clinically heterogeneous group of multisystem disorders that arise due to dysregulation of oxidative phosphorylation, followed by abnormalities in the nervous system and/ or skeletal muscle [1–3]. The heterogeneity of clinical features is common even amongst members of the same family and vary from the severe central nervous system (CNS) * Hamid Ghaedi [email protected] 1
Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
2
Department of Medical Laboratory Technology, School of Allied Medical Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran
3
RayeGen Daru Co, Tehran, Iran
4
Department of Laboratory Sciences, Faculty of Paramedicine, Yasuj University of Medical Sciences, Yasuj, Iran
dysfunction to myopathy [1]. Molecular genetic testing is the proposed diagnosis procedure of the disorder [1]. To date, over 100 mutations of mitochondrial DNA (mtDNA) have been discovered in mitochondrial encephalomyopathies. This include point mutations of genes encoding transfer RNA, ribosomal RNA, and proteins, as well as large-scale deletions. There are evidences that show genotype–phenotype correlation at least in some cases [2, 3]. In particular, mutations in the SUCLG1 and SUCLA2 genes have been reported to be associated wit
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