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August-2018 Volume 9 Issue 2

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Review

Phenotypic spectrum of SLC25A4 mutations (Review)

  • Authors:
    • Josef Finsterer
    • Sinda Zarrouk‑Mahjoub
  • View Affiliations / Copyright

    Affiliations: Department of Neurology, Municipal Hospital Rudolfstiftung, A‑1180 Vienna, Austria, University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunis 1068, Tunisia
  • Pages: 119-122
    |
    Published online on: June 20, 2018
       https://doi.org/10.3892/br.2018.1115
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Abstract

There is no comprehensive overview concerning the phenotypic variability in patients carrying SLC25A4 mutations available. Therefore, the aim of the present review was to summarise and discuss recent findings concerning the clinical presentation and phenotypic heterogeneity of SLC25A4 mutations. The study was conducted by systematically reviewing the literature using the search terms ‘mitochondrial’, “myopathy’, ‘nuclear DNA’, ‘mitochondrial DNA’, in combination with ‘SLC25A4’ or ‘AAC1’. The results indicated that the phenotypic heterogeneity in patients carrying a SLC25A4 mutation is broader than so far anticipated. Patients carrying a SLC25A4 mutation not only manifest as encephalo‑myo‑cardiomyopathy but also with scoliosis, cataract, depression, headache, hydrocephalus or arterial hypertension. SLC25A4 mutations may result in mtDNA depletion or multiple mitochondrial (mt)DNA deletions. SLC25A4‑associated mtDNA depletion presents with the more severe phenotype and the worse outcome than patients with multiple mtDNA deletions. Depletion syndrome due to SLC25A4 mutations is associated with congenital respiratory insufficiency requiring mechanical ventilation with poor prognosis in the majority of the cases. Mutations in the SLC25A4 gene manifest phenotypically with multiorgan abnormalities in addition to encephalo‑myo‑cardiomyopathy. SLC25A4 mutations, causing mtDNA depletion, present with a more severe phenotype, including respiratory insufficiency and more widespread cerebral disease than mutations causing multiple mtDNA deletions.
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Copy and paste a formatted citation
Spandidos Publications style
Finsterer J and Zarrouk‑Mahjoub S: Phenotypic spectrum of SLC25A4 mutations (Review). Biomed Rep 9: 119-122, 2018.
APA
Finsterer, J., & Zarrouk‑Mahjoub, S. (2018). Phenotypic spectrum of SLC25A4 mutations (Review). Biomedical Reports, 9, 119-122. https://doi.org/10.3892/br.2018.1115
MLA
Finsterer, J., Zarrouk‑Mahjoub, S."Phenotypic spectrum of SLC25A4 mutations (Review)". Biomedical Reports 9.2 (2018): 119-122.
Chicago
Finsterer, J., Zarrouk‑Mahjoub, S."Phenotypic spectrum of SLC25A4 mutations (Review)". Biomedical Reports 9, no. 2 (2018): 119-122. https://doi.org/10.3892/br.2018.1115
Copy and paste a formatted citation
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Spandidos Publications style
Finsterer J and Zarrouk‑Mahjoub S: Phenotypic spectrum of SLC25A4 mutations (Review). Biomed Rep 9: 119-122, 2018.
APA
Finsterer, J., & Zarrouk‑Mahjoub, S. (2018). Phenotypic spectrum of SLC25A4 mutations (Review). Biomedical Reports, 9, 119-122. https://doi.org/10.3892/br.2018.1115
MLA
Finsterer, J., Zarrouk‑Mahjoub, S."Phenotypic spectrum of SLC25A4 mutations (Review)". Biomedical Reports 9.2 (2018): 119-122.
Chicago
Finsterer, J., Zarrouk‑Mahjoub, S."Phenotypic spectrum of SLC25A4 mutations (Review)". Biomedical Reports 9, no. 2 (2018): 119-122. https://doi.org/10.3892/br.2018.1115
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