1. Identification of a deletion in the NDUFS4 gene using array-comparative genomic hybridization in a patient with suspected mitochondrial respiratory disease.
- Author
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Lombardo B, Ceglia C, Tarsitano M, Pierucci I, Salvatore F, and Pastore L
- Subjects
- Chromosome Deletion, Chromosomes, Human, Pair 5, Comparative Genomic Hybridization, Electron Transport Complex I, Exons, Fatal Outcome, Female, Gene Order, Homozygote, Humans, Infant, Syndrome, Mitochondrial Diseases diagnosis, Mitochondrial Diseases genetics, NADH Dehydrogenase genetics, Sequence Deletion
- Abstract
We evaluated a patient, born after a normal 38-week pregnancy, with psychomotor retardation, poor coordination of ocular movements, recurrent vomiting and severe lactic acidosis. The patient was admitted to hospital at 2 months of age because of a mitochondrial-like syndrome and died at the age of 4.5 months. Array-comparative genomic hybridization (a-CGH) analysis revealed a homozygous deletion in 5q11.2 involving NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18 kDa (NADH-coenzyme Q reductase; NDUFS4). Both parents were heterozygous for the mutation. The array revealed a deletion of ~32kb that includes exon 2 of NDUFS4 subsequently confirmed by real time-PCR and multiplex PCR. NDUFS4 was previously correlated to Leigh syndrome since mutations in this gene block the assembly of complex I. This result demonstrates the relevance of a-CGH screening in patients affected by metabolic disorders of unknown etiology., (Copyright © 2013 Elsevier B.V. All rights reserved.)
- Published
- 2014
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