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

详细信息    查看全文

• 作者：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 R
• 关键词：DCX ; m.3243A > ; G ; Mitochondrial disorders ; Mental retardation
• 刊名：Mitochondrion
• 出版年：2010
• 出版时间：August 2010
• 年：2010
• 卷：10
• 期：5
• 页码：548-554
• 全文大小：1213 K

文摘

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.