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

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...

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Bibliographic Details
Published in:BMC neurology 2011-07, Vol.11 (1), p.85-85, Article 85
Main Authors: 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 P
Format: Article
Language:English
Subjects:
Case Report
DNA Mutational Analysis
DNA, Mitochondrial - genetics
Female
Gene mutations
Genetic aspects
Humans
Infant
Leigh disease
Leigh Disease - genetics
Leigh Disease - pathology
Leigh Disease - physiopathology
Leigh Syndrome
LHON
mitochondrial Complex I
Mitochondrial DNA
MT-CYB
MT-ND6
Physiological aspects
Point Mutation
Risk factors
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Summary: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. 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. 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.
ISSN:1471-2377
1471-2377
DOI:10.1186/1471-2377-11-85