Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5905979 | Gene | 2014 | 4 Pages |
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 2Â months of age because of a mitochondrial-like syndrome and died at the age of 4.5Â months. Array-comparative genomic hybridization (a-CGH) analysis revealed a homozygous deletion in 5q11.2 involving NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18Â kDa (NADH-coenzyme Q reductase; NDUFS4). Both parents were heterozygous for the mutation. The array revealed a deletion of ~Â 32Â kb 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.
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Authors
Barbara Lombardo, Carlo Ceglia, Marina Tarsitano, Ippolito Pierucci, Francesco Salvatore, Lucio Pastore,