Metabolic Brain Disease

, Volume 33, Issue 6, pp 1779–1780 | Cite as

Reply to ‘contribution of the MRPS22 variant and a down mosaic to the phenotype’

  • Mustafa KılıçEmail author
  • Esra Kılıç
  • Didem Yücel Yılmaz
  • Rıza Köksal Özgül

Lettter to the Editor.

We would like to respond to the questions raised by Finsterer and Zarrouk-Mahjoub (2018) and thank them for their interest and suggestions on our case report. We tried to provide as much clinical detail as possible in our case report.

We presented a case concerning a 4-month-old severely affected male infant. The child manifested such symptoms as mild dysmorphism, central hypotonia, developmental delay, dysphagia. Laboratory findings revealed, among others, mild lactic acidemia and presence of Krebs-cycle intermediates in urine. Brain MR imaging performed 10 months after the initial presentation showed symmetrical bilateral brainstem and medial thalamic lesions and cerebellar and cerebral atrophy. Whole exome sequencing revealed a homozygous splicing mutation c.339+5 G>A in MRPS22 gene but also other variations in different genes (CARS2, SNX13, TBCK, EGFL7, PLP1). Chromosome analysis showed mosaic Down syndrome pattern (47,XY,+21[4]/46,XY[46]). Based on overall...


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Conflict of interest

There are no conflicts of interest.


  1. Finsterer J, Zarrouk-Mahjoub S (2018) Correction to: contribution of the MRPS22 variant and a down mosaic to the phenotype. Metab Brain Dis 33(1):13. CrossRefPubMedGoogle Scholar
  2. Kılıç M, Oğuz KK, Kılıç E, Yüksel D, Demirci H, Sağıroğlu MŞ, Yücel-Yılmaz D, Özgül RK (2017) A patient with mitochondrial disorder due to a novel mutation in MRPS22. Metab Brain Dis 32(5):1389–1393. CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Mustafa Kılıç
    • 1
    Email author
  • Esra Kılıç
    • 2
  • Didem Yücel Yılmaz
    • 3
  • Rıza Köksal Özgül
    • 3
  1. 1.Metabolism UnitSami Ulus Children HospitalAnkaraTurkey
  2. 2.Pediatric Genetic UnitPediatric Hematology-Oncology Training and Research HospitalAnkaraTurkey
  3. 3.Institute of Child Health, Metabolism UnitHacettepe UniversityAnkaraTurkey

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