title: Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report.
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.
  
  
  METHODS
  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.
authors.affiliation: Centro Dino Ferrari, Department of Neurological Sciences, University of Milan, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, via Francesco Sforza 35, 20122 Milan, Italy.
authors.forename: Dario
authors.initials: D
authors.lastname: Ronchi
authors.forename: Alessandra
authors.initials: A
authors.lastname: Cosi
authors.forename: Davide
authors.initials: D
authors.lastname: Tonduti
authors.forename: Simona
authors.initials: S
authors.lastname: Orcesi
authors.forename: Andreina
authors.initials: A
authors.lastname: Bordoni
authors.forename: Francesco
authors.initials: F
authors.lastname: Fortunato
authors.forename: Mafalda
authors.initials: M
authors.lastname: Rizzuti
authors.forename: Monica
authors.initials: M
authors.lastname: Sciacco
authors.forename: Martina
authors.initials: M
authors.lastname: Collotta
authors.forename: Sophie
authors.initials: S
authors.lastname: Cagdas
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Capovilla
authors.forename: Maurizio
authors.initials: M
authors.lastname: Moggio
authors.forename: Angela
authors.initials: A
authors.lastname: Berardinelli
authors.forename: Pierangelo
authors.initials: P
authors.lastname: Veggiotti
authors.forename: Giacomo P
authors.initials: GP
authors.lastname: Comi
mesh_terms: D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D017354:Point Mutation
chemical_list: D004272:DNA, Mitochondrial