A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency

被引：27

作者：

Chae, Jong Hee

Lee, Jin Sook

Kim, Ki Joong

Hwang, Yong Seung

Bonilla, Eduardo

Tanji, Kurenai

Hirano, Michio

机构：

[1] Columbia Univ, Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA

[2] Seoul Natl Univ, Coll Med, Dept Pediat, Seoul 110744, South Korea

来源：

PEDIATRIC RESEARCH | 2007年 / 61卷 / 05期

关键词：

D O I：

10.1203/pdr.0b013e3180459f2d

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Mitochondrial disorders have notoriously variable clinical presentations, particularly in children. A growing number of reports describe mutations in the mitochondrial DNA (mtDNA)encoded subunits of complex I (EC 1.6.5.3) causing early-onset encephalopathy. Here, we describe two Korean siblings with childhood-onset progressive generalized dystonia and one Korean child with strokelike episodes in infancy; all three had bilateral lesions of the basal ganglia and partial deficiencies of complex 1. Analysis of their mtDNA revealed a novel heteroplasmic m.10197G > A mutation (A47T) in the ND3 (NADH dehydrogenase subunit 3) gene. This study underscores the importance of screening mtDNA-encoded respiratory chain structural genes, including ND3, in pediatric patients with unexplained encephalopathies.

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收藏

页码：622 / 624

页数：3

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