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

作者：Baertling Fabian; Haack Tobias B; Rodenburg Richard J; Schaper Joerg; Seibt Annette; Strom Tim M; Meitinger Thomas; Mayatepek Ertan; Hadzik Berit; Selcan Gunduz; Prokisch Holger; Distelmaier Felix^*

来源：Neurogenetics, 2015, 16(3): 237-240.

DOI：10.1007/s10048-015-0440-6

• Mitochondrial ribosome
• Oxidative phosphorylation system
• Mitochondrial disease
• Lactic acidosis

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.

• 出版日期2015-7