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

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.

• Authors: 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
• Journal: Mitochondrion (Mitochondrion) Vol. 10 Issue 5 Pg. 548-54 (Aug 2010) ISSN: 1872-8278 [Electronic] Netherlands
• PMID: 20433951 (Publication Type: Case Reports, Journal Article)
• Copyright: (c) 2010 Mitochondria Research Society. Published by Elsevier B.V. All rights reserved.

Chemical References

• Codon, Nonsense
• DCX protein, human
• Doublecortin Domain Proteins
• Doublecortin Protein
• Microtubule-Associated Proteins
• Neuropeptides
• DNA

Topics

• Adolescent
• Classical Lissencephalies and Subcortical Band Heterotopias (genetics)
• Codon, Nonsense
• DNA (genetics)
• DNA Fingerprinting
• Doublecortin Domain Proteins
• Doublecortin Protein
• Female
• Frameshift Mutation
• Humans
• Microtubule-Associated Proteins (genetics)
• Mitochondrial Encephalomyopathies (genetics)
• Mutagenesis, Insertional
• Neuropeptides (genetics)
• Point Mutation
• Polymorphism, Restriction Fragment Length
• Sequence Analysis, DNA