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A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole‑exome sequencing

  • Authors:
    • Meryem Alagoz
    • Nasim Kherad
    • Selda Turkmen
    • Hatice Bulut
    • Adnan Yuksel
  • View Affiliations / Copyright

    Affiliations: Department of Molecular Biology and Genetics, Genome Centre, Biruni University, Istanbul 34010, Turkey, Department of Medical Biology, Istanbul Cerrahpasa University, Istanbul 34096, Turkey, Faculty of Medicine, Biruni University Hospital, Istanbul 34010, Turkey
    Copyright: © Alagoz et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 3505-3512
    |
    Published online on: April 9, 2020
       https://doi.org/10.3892/etm.2020.8658
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Abstract

The condition 3-methylglutaconic aciduria (3‑MGA) with deafness, encephalopathy and Leigh-like (MEGDEL) syndrome, also known as 3‑MGA IV, is one of a group of five rare metabolic disorders characterized by mitochondrial dysfunction, resulting in a series of phenotypic abnormalities. It is a rare, recessive inherited disorder with a limited number of cases reported worldwide; hence, it is important to study each case to understand its genetic complexity. An impaired activity of serine active site‑containing protein 1 (SERAC1), caused by mutations, leads to defects in phosphatidylglycerol remodelling, which is important for mitochondrial function and intracellular cholesterol trafficking. In the present study, the patients (two male siblings of consanguineous Turkish parents) were analysed, whose multisystem dysfunctions, including an elevated 3‑MGA concentration in early age, hearing loss and Leigh‑like syndrome as determined by MRI, were consistent with MEGDEL syndrome. A novel mutation in the SERAC1 gene, in the upstream lipase domain, c.1015G>C (p.Gly339Arg) mutation located on exon 10 of the SERAC1, was identified and predicted to cause protein dysfunction. Furthermore, the results pointed towards a possible association between this mutation and the severity of MEGDEL syndrome.
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Copy and paste a formatted citation
Spandidos Publications style
Alagoz M, Kherad N, Turkmen S, Bulut H and Yuksel A: A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole‑exome sequencing. Exp Ther Med 19: 3505-3512, 2020.
APA
Alagoz, M., Kherad, N., Turkmen, S., Bulut, H., & Yuksel, A. (2020). A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole‑exome sequencing. Experimental and Therapeutic Medicine, 19, 3505-3512. https://doi.org/10.3892/etm.2020.8658
MLA
Alagoz, M., Kherad, N., Turkmen, S., Bulut, H., Yuksel, A."A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole‑exome sequencing". Experimental and Therapeutic Medicine 19.6 (2020): 3505-3512.
Chicago
Alagoz, M., Kherad, N., Turkmen, S., Bulut, H., Yuksel, A."A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole‑exome sequencing". Experimental and Therapeutic Medicine 19, no. 6 (2020): 3505-3512. https://doi.org/10.3892/etm.2020.8658
Copy and paste a formatted citation
x
Spandidos Publications style
Alagoz M, Kherad N, Turkmen S, Bulut H and Yuksel A: A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole‑exome sequencing. Exp Ther Med 19: 3505-3512, 2020.
APA
Alagoz, M., Kherad, N., Turkmen, S., Bulut, H., & Yuksel, A. (2020). A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole‑exome sequencing. Experimental and Therapeutic Medicine, 19, 3505-3512. https://doi.org/10.3892/etm.2020.8658
MLA
Alagoz, M., Kherad, N., Turkmen, S., Bulut, H., Yuksel, A."A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole‑exome sequencing". Experimental and Therapeutic Medicine 19.6 (2020): 3505-3512.
Chicago
Alagoz, M., Kherad, N., Turkmen, S., Bulut, H., Yuksel, A."A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole‑exome sequencing". Experimental and Therapeutic Medicine 19, no. 6 (2020): 3505-3512. https://doi.org/10.3892/etm.2020.8658
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