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Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation: a case report

Author(s): Ronchi Dario | Cosi Alessandra | Tonduti Davide | Orcesi Simona | Bordoni Andreina | Fortunato Francesco | Rizzuti Mafalda | Sciacco Monica | Collotta Martina | Cagdas Sophie | Capovilla Giuseppe | Moggio Maurizio | Berardinelli Angela | Veggiotti Pierangelo | Comi Giacomo

Journal: BMC Neurology
ISSN 1471-2377

Volume: 11;
Issue: 1;
Start page: 85;
Date: 2011;
Original page

Keywords: Leigh Syndrome | mitochondrial DNA | LHON | MT-ND6 | MT-CYB | mitochondrial Complex I

Abstract Background Leigh Syndrome (LS) is a severe neurodegenerative disorder characterized by bilateral symmetrical necrotic lesions in the basal ganglia and brainstem. Onset is in early infancy and prognosis is poor. Causative mutations have been disclosed in mitochondrial DNA and nuclear genes affecting respiratory chain subunits and assembly factors. Case presentation Here we report the clinical and molecular features of a 15-month-old female LS patient. Direct sequencing of her muscle-derived mtDNA revealed the presence of two apparently homoplasmic variants: the novel m.14792C > G and the already known m.14459G > A resulting in p.His16Asp change in cytochrome b (MT-CYB) and p.Ala72Val substitution in ND6 subunit, respectively. The m.14459G > A was heteroplasmic in the mother's blood-derived DNA. Conclusions The m.14459G > A might lead to LS, complicated LS or Leber Optic Hereditary Neuropathy. A comprehensive re-evaluation of previously described 14459G > A-mutated patients does not explain this large clinical heterogeneity.

Tango Jona
Tangokurs Rapperswil-Jona

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