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MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities

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Abstract

The mitochondrial ribosomes are required for the synthesis of mitochondrial DNA-encoded subunits of the oxidative phosphorylation (OXPHOS) system. Here, we present a neonate with fatal lactic acidosis and combined OXPHOS deficiency caused by a homozygous mutation in MRPS22, a gene encoding a mitochondrial ribosomal small subunit protein. Brain imaging revealed several structural abnormalities, including agenesis of the corpus callosum, multiple periventricular cysts, and suspected intracerebral calcifications. Moreover, echocardiography demonstrated atrial and ventricular septal defects as well as a coronary artery fistula. Our report expands the clinical spectrum of this rare mitochondrial disorder and confirms the severe clinical phenotype associated with this defect.

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Funding

This project was supported by the BMBF funded German Network for Mitochondrial Disorders (mitoNET no. 01GM1113C) and by the E-Rare project GENOMIT (01GM1207). Moreover, this work was supported by the Deutsche Forschungsgemeinschaft (German Research Foundation) within the framework of the Munich Cluster for Systems Neurology (EXC 1010 SyNergy).

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Correspondence to Holger Prokisch or Felix Distelmaier.

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Fabian Baertling and Tobias B. Haack contributed equally to this work.

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Baertling, F., Haack, T.B., Rodenburg, R.J. et al. MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities. Neurogenetics 16, 237–240 (2015). https://doi.org/10.1007/s10048-015-0440-6

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  • DOI: https://doi.org/10.1007/s10048-015-0440-6

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