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A patient with mitochondrial disorder due to a novel mutation in MRPS22

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A Commentary to this article was published on 30 September 2017

Abstract

MRPS22 gene defect is a very rare newly discovered mitochondrial disorder. We report a 4-month-old severely affected male infant with MRPS22 mutation. Whole exome sequencing revealed a novel homozygous splicing mutation c.339 + 5 G > A in MRPS22 gene. He has mild dysmorphism, hypotonia, developmental delay but not hypertrophic cardiomyopathy and tubulopathy which differ from other majority of reported patients. Therefore, hypertrophic cardiomyopathy and tubulopathy may not be considered as constant features of MRPS22. With this case report, we also present first symmetrical bilateral brainstem and medial thalamic lesions, and cerebellar and cerebral atrophy on a brain MR imaging follow-up of ten months.

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Authors and Affiliations

  1. Sami Ulus Children Hospital, Metabolism Unit, Babur cad. No: 44, 06080, Altındağ, Ankara, Turkey

    Mustafa Kılıç

  2. Deparment of Radiology, Hacettepe University, Ankara, Turkey

    Kader-Karli Oğuz

  3. Pediatric Hematology-Oncology Training and Research Hospital, Pediatric Genetic Unit, Ankara, Turkey

    Esra Kılıç

  4. Sami Ulus Children Hospital, Pediatric Neurology Unit, Ankara, Turkey

    Deniz Yüksel

  5. TÜBİTAK, IGBAM, Gebze, Kocaeli, Turkey

    Hüseyin Demirci & Mahmut Şamil Sağıroğlu

  6. Institute of Child Health, Metabolism Unit, Hacettepe University, Ankara, Turkey

    Didem Yücel-Yılmaz & Rıza Köksal Özgül

Authors
  1. Mustafa Kılıç
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  2. Kader-Karli Oğuz
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  3. Esra Kılıç
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  4. Deniz Yüksel
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  5. Hüseyin Demirci
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  6. Mahmut Şamil Sağıroğlu
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  7. Didem Yücel-Yılmaz
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  8. Rıza Köksal Özgül
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Corresponding author

Correspondence to Mustafa Kılıç.

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The authors declare that they have no conflict of interest.

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Kılıç, M., Oğuz, KK., Kılıç, E. et al. A patient with mitochondrial disorder due to a novel mutation in MRPS22. Metab Brain Dis 32, 1389–1393 (2017). https://doi.org/10.1007/s11011-017-0074-5

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  • DOI: https://doi.org/10.1007/s11011-017-0074-5

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