5q14.3 Deletion Manifesting as Mitochondrial Disease and Autism: Case Report
5q14.3 Deletion Manifesting as Mitochondrial Disease and Autism: Case Report
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DOI：
10.1177/0883073809361165
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发表时间：
2010-10-01
影响因子：
1.9
通讯作者：
Marks, Harold
中科院分区：
文献类型：
--
作者：
Ezugha, Herbert;Goldenthal, Michael;Marks, Harold
线粒体疾病通常与电子传递链或呼吸链的5种复合物（I至V）中的1种或多种缺陷相关。复合体I和IV是人类电子传递链的2种最常见的异常。作者报告了一个12岁男孩的情况下，畸形面容，智力低下，自闭症，癫痫和腿无力。口腔拭子电子传递链分析显示复合物IV严重降低，复合物I活性水平轻度降低。染色体微阵列研究，使用阵列为基础的比较基因组杂交，发现在5q14.3区域的1-Mb缺失。该病例说明，这种缺失可能与复合物I和IV缺陷相关，因此表现为线粒体疾病。可以假设编码或调节复合物IV或I亚基的表达和/或组装的基因位于5q14.3的缺失区域内。
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.