5q14.3 Deletion Manifesting as Mitochondrial Disease and Autism: Case Report

被引：37

作者：

Ezugha, Herbert

Goldenthal, Michael ^{[2
]}

Valencia, Ignacio

Anderson, Carol E.

Legido, Agustin

Marks, Harold ^{[1
]}

机构：

[1] Drexel Univ, Neurol Serv, Neurol Sect, St Christophers Hosp Children, Philadelphia, PA 19134 USA

[2] Drexel Univ, Neurol Res Lab, St Christophers Hosp Children, Coll Med, Philadelphia, PA 19134 USA

来源：

JOURNAL OF CHILD NEUROLOGY | 2010年 / 25卷 / 10期

关键词：

deletion; mitochondrial; microarray; electron transport; CYTOCHROME-C-OXIDASE; SPECTRUM; DYSFUNCTION; DEFICIENCY; PROTEIN;

D O I：

10.1177/0883073809361165

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mitochondrial disorders are usually associated with defects of 1 or more of the 5 complexes (I to V) of the electron transport chain, or respiratory chain. Complex I and IV are the 2 most frequent abnormalities of the electron transport chain in humans. The authors report the case of a 12-year-old boy with dysmorphic facies, mental retardation, autism, epilepsy, and leg weakness. Buccal swab electron transport chain analysis revealed severe decrease in complex IV and mild reduction in complex I activity levels. Chromosomal microarray studies, using array-based comparative genomic hybridization, revealed a 1-Mb deletion in the 5q14.3 region. This case illustrates that this deletion can be associated with complex I and IV deficits, hence manifesting as a mitochondrial disease. It could be hypothesized that genes that either encode or regulate the expression and/or assembly of complex IV or I subunits are located within the deleted region of 5q14.3.

引用

页码：1232 / 1235

页数：4

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