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A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases

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Abstract

ARSACS is an autosomal recessive disorder characterized by ataxia, spasticity, and polyneuropathy. A plethora of worldwide distributed mutations have been described so far. Here, we report two brothers, born to non-consanguineous parents, presenting with cerebellar ataxia and peripheral neuropathy. Whole-exome sequencing revealed the presence of a novel homozygous variant in the SACS gene. The variant was confirmed by Sanger sequencing and found at heterozygous state in both parents. This is the first reported mutation in this gene, in Greek population. This case report further highlights the growing trend of identifying genetic diseases previously restricted to single, ethnically isolated regions in many different ethnic groups worldwide. Additionally, we performed a systematic review of all published cases with SACs mutations. ARSACS seems to be an important cause of ataxia and many different types of mutations have been identified, mainly located in exon 10. We evaluated the mutation pathogenicity in all previously reported cases to investigate possible phenotype-genotype correlations. We managed to find a correlation between the pathogenicity of mutations, severity of the phenotype, and age of onset of ARSACS. Greater mutation numbers in different populations will be important and mutation-specific functional studies will be essential to identify the pathogenicity of the various ARSACS variants.

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Acknowledgments

We are grateful to patients and their family for contributing to this study.

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Authors and Affiliations

  1. Department of Neurology, University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece

    Georgia Xiromerisiou

  2. Department of Hygiene and Epidemiology, Faculty of Medicine, University of Thessaly, Larissa, Greece

    Katerina Dadouli

  3. Department of Neurology, University of Thessaly, University Hospital of Larissa, Larissa, Greece

    Chrysoula Marogianni, Antonios Provatas, Dimitrios Rikos & Despina Georgouli

  4. Department of Medical Oncology, University Hospital of Ioannina, Ioannina, Greece

    Panagiotis Ntellas

  5. Department of Neurology, Mediterraneo Hospital, Glyfada, Athens, Greece

    Pantelis Stathis

  6. Department of Neurology, Laboratory of Neurogenetics, University of Thessaly, University Hospital of Larissa, Larissa, Greece

    Georgios M. Hadjigeorgiou

  7. Department of Neurology, Medical School, University of Cyprus, Nicosia, Cyprus

    Georgios M. Hadjigeorgiou

  8. CeMIA S.A., Larissa, Greece

    Gedeon Loules & Maria Zamanakou

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  1. Georgia Xiromerisiou
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Xiromerisiou, G., Dadouli, K., Marogianni, C. et al. A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases. J Mol Neurosci 70, 131–141 (2020). https://doi.org/10.1007/s12031-019-01410-z

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