title: MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.
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.
authors: Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Duesseldorf, Moorenstr. 5, 40225, Duesseldorf, Germany.
authors: Fabian
authors: F
authors: Baertling
authors: Tobias B
authors: TB
authors: Haack
authors: Richard J
authors: RJ
authors: Rodenburg
authors: Jörg
authors: J
authors: Schaper
authors: Annette
authors: A
authors: Seibt
authors: Tim M
authors: TM
authors: Strom
authors: Thomas
authors: T
authors: Meitinger
authors: Ertan
authors: E
authors: Mayatepek
authors: Berit
authors: B
authors: Hadzik
authors: Gündüz
authors: G
authors: Selcan
authors: Holger
authors: H
authors: Prokisch
authors: Felix
authors: F
authors: Distelmaier
mesh_terms: D000140:Acidosis, Lactic / Q000150:complications / Q000235:genetics*; D001921:Brain / Q000473:pathology; D017809:Fatal Outcome; D005347:Fibroblasts / Q000378:metabolism; D016368:Frameshift Mutation; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D028361:Mitochondrial Diseases / Q000150:complications / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics* / Q000378:metabolism; D009206:Myocardium / Q000473:pathology; D012269:Ribosomal Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: C526186:MRPS22 protein, human; D024101:Mitochondrial Proteins; D012269:Ribosomal Proteins