MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.
Neurogenetics
; 16(3): 237-40, 2015 Jul.
Article
en En
| MEDLINE
| ID: mdl-25663021
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.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Proteínas Ribosómicas
/
Acidosis Láctica
/
Enfermedades Mitocondriales
/
Proteínas Mitocondriales
Tipo de estudio:
Etiology_studies
Límite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Neurogenetics
Asunto de la revista:
GENETICA
/
NEUROLOGIA
Año:
2015
Tipo del documento:
Article
País de afiliación:
Alemania