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Open Access Green as soon as Postprint is submitted to ZB.
MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.
Neurogenetics 16, 237-240 (2015)
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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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Lactic Acidosis ; Mitochondrial Disease ; Mitochondrial Ribosome ; Oxidative Phosphorylation System; Complex-i; Mitochondrial Disease; Deficiency; Diagnosis
ISSN (print) / ISBN
1364-6745
e-ISSN
1364-6753
Journal
Neurogenetics
Quellenangaben
Volume: 16,
Issue: 3,
Pages: 237-240
Publisher
Springer
Publishing Place
New York
Non-patent literature
Publications
Reviewing status
Peer reviewed
Institute(s)
Institute of Human Genetics (IHG)