The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review
Authors:
- Eugenia BorgioneEBEugenia Borgione
- Mariangela Lo GiudiceMGMariangela Lo Giudice
- Sandro Santa PaolaSPSandro Santa Paola
- Marika GiulianoMGMarika Giuliano
- Francesco Domenico Di BlasiFBFrancesco Domenico Di Blasi
- Vincenzo Di StefanoVincenzo Di Stefano
- Antonino LupicaALAntonino Lupica
- Filippo BrighinaFilippo Brighina
- Rosa PettinatoRPRosa Pettinato
- Corrado RomanoCorrado Romano
- Carmela ScuderiCSCarmela Scuderi
Open Access
Abstract
Mitochondrial tRNASer(UCN) is considered a hot-spot for non-syndromic and aminoglycoside-induced hearing loss. However, many patients have been described with more extensive neurological diseases, mainly including epilepsy, myoclonus, ataxia, and myopathy. We describe a novel homoplasmic m.7484A>G mutation in the tRNASer(UCN) gene affecting the third base of the anticodon triplet in a girl with profound intellectual disability, spastic tetraplegia, sensorineural hearing loss, a clinical history of epilepsia partialis continua and vomiting, typical of MELAS syndrome, leading to a myoclonic epilepticus status, and myopathy with severe COX deficiency at muscle biopsy. The mutation was also found in the homoplasmic condition in the mother who presented with mild cognitive deficit, cerebellar ataxia, myoclonic epilepsy, sensorineural hearing loss and myopathy with COX deficient ragged-red fibers consistent with MERRF syndrome. This is the first anticodon mutation in the tRNASer(UCN) and the second homoplasmic mutation in the anticodon triplet reported to date.Keywords
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