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

被引：34

作者：

Baertling, Fabian ^{[1
]}

Haack, Tobias B. ^{[2
,3
]}

Rodenburg, Richard J. ^{[4
]}

Schaper, Joerg ^{[5
]}

Seibt, Annette ^{[1
]}

Strom, Tim M. ^{[2
,3
]}

Meitinger, Thomas ^{[2
,3
,7
]}

Mayatepek, Ertan ^{[1
]}

Hadzik, Berit ^{[1
]}

Selcan, Gunduz ^{[6
]}

Prokisch, Holger ^{[2
,3
]}

Distelmaier, Felix ^{[1
]}

机构：

[1] Univ Dusseldorf, Univ Childrens Hosp, Dept Gen Pediat Neonatol & Pediat Cardiol, D-40225 Dusseldorf, Germany

[2] Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany

[3] Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany

[4] Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mitochondrial Disorders, Dept Pediat, NL-6500 HB Nijmegen, Netherlands

[5] Univ Dusseldorf, Dept Diagnost & Intervent Radiol, Dusseldorf, Germany

[6] Bethanien Hosp Moers, Dept Pediat, D-47441 Moers, Germany

[7] Munich Cluster Syst Neurol SyNergy, Munich, Germany

来源：

NEUROGENETICS | 2015年 / 16卷 / 03期

关键词：

Mitochondrial ribosome; Oxidative phosphorylation system; Mitochondrial disease; Lactic acidosis; COMPLEX-I; MITOCHONDRIAL DISEASE; DEFICIENCY; DIAGNOSIS;

D O I：

10.1007/s10048-015-0440-6

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

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.

引用

页码：237 / 240

页数：4

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