Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex

Carmela Scuderi, Eugenia Borgione, Filippa Castello, Mariangela Lo Giudice, Marco Fichera, Maurizio Elia, Carmelo Amato, Maria Savio, Francesco Domenico Di Blasi, Girolamo Aurelio Vitello, Salvatore Romano, Salvatore DiMauro, Sebastiano Antonino Musumeci

Research output: Contribution to journalArticlepeer-review

Abstract

We describe a 16-year-old girl with mental retardation, myoclonic epilepsy, ataxia, mitochondrial myopathy, sensorineural hearing loss, lactic acidosis, and MRI evidence of diffuse subcortical laminar heterotopia and agyria/pachygyria. Restriction fragment length polymorphism (RFLP) and DNA sequence analyses revealed two pathogenic mutations: a heteroplasmic m.3243A > G in muscle and blood, and a new heterozygous insertion at nt697 in the doublecortin gene (DCX), resulting in a frameshift after amino acid residue 232, with a premature stop codon at amino acid residue 244. This is yet another example of genetic " double trouble" resulting in a complex phenotype.

Original languageEnglish
Pages (from-to)548-554
Number of pages7
JournalMitochondrion
Volume10
Issue number5
DOIs
Publication statusPublished - Aug 2010

Keywords

  • DCX
  • M.3243A>G
  • Mental retardation
  • Mitochondrial disorders

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology
  • Molecular Medicine

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