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5q14.3 Deletion Manifesting as Mitochondrial Disease and Autism: Case Report
Journal article   Peer reviewed

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

Herbert Ezugha, Michael Goldenthal, Ignacio Valencia, Carol E. Anderson, Agustin Legido and Harold Marks
Journal of child neurology, v 25(10), pp 1232-1235
Oct 2010
DOI: https://doi.org/10.1177/0883073809361165
PMID: 20179003
Featured in Collection :   UN Sustainable Development Goals @ Drexel

Abstract

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.

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39 citations in Web of Science
43 citations in Scopus

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Web of Science research areas
Clinical Neurology
Pediatrics
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