Homoplasmy of a mitochondrial 3697G >A mutation causes Leigh syndrome

Yutaka Negishi, Ayako Hattori, Eri Takeshita, Chika Sakai, Naoki Ando, Tetsuya Ito, Yu Ichi Goto, Shinji Saitoh

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16 Citations (Scopus)


Herein we report on three siblings with Leigh syndrome (LS) harboring a homoplasmic m.3697G>A mutation (G131S) in the MT-ND1 gene. The siblings' phenotypically normal mother had the same, albeit heteroplasmic, mutation. Complex I deficiency (8% of average control values) was demonstrated in a biceps brachii muscle from one of the patients. Heteroplasmic m.3697G>A has been reported in patients with Leber's hereditary optic neuropathy, mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes and Stüve-Wiedemann syndrome. Because all three patients in this series carried m.3697G>A in a homoplasmic manner and had LS, we suggest that homoplasmy of m.3697G>A may cause the LS phenotype.

Original languageEnglish
Pages (from-to)405-407
Number of pages3
JournalJournal of Human Genetics
Issue number7
Publication statusPublished - 07-2014
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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