5q14.3 deletion manifesting as mitochondrial disease and autism: case report.
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.
Ezugha
Herbert
H
Sections of Neurology, St Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA, USA.
Goldenthal
Michael
M
Valencia
Ignacio
I
Anderson
Carol E
CE
Legido
Agustin
A
Marks
Harold
H
D001321:Autistic Disorder / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D028361:Mitochondrial Diseases / Q000150:complications / Q000235:genetics* / Q000503:physiopathology