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Open Access Case report

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

Dario Ronchi1, Alessandra Cosi1, Davide Tonduti2, Simona Orcesi2, Andreina Bordoni1, Francesco Fortunato1, Mafalda Rizzuti1, Monica Sciacco1, Martina Collotta1, Sophie Cagdas3, Giuseppe Capovilla3, Maurizio Moggio1, Angela Berardinelli2, Pierangelo Veggiotti2 and Giacomo P Comi1*

Author Affiliations

1 Centro Dino Ferrari, Department of Neurological Sciences, University of Milan, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, via Francesco Sforza 35, 20122 Milan, Italy

2 Foundation IRCCS Istituto Neurologico C. Mondino, Via Mondino 2, 27100 Pavia, Italy

3 Epilepsy Center, Department of Child Neuropsychiatry, C Poma Hospital, Strada Lago Paiolo 10, 46100 Mantova, Italy

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BMC Neurology 2011, 11:85  doi:10.1186/1471-2377-11-85

Published: 12 July 2011

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.

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