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

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

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
Volume59
Issue number7
DOIs
Publication statusPublished - 01-01-2014
Externally publishedYes

Fingerprint

Leigh Disease
Mutation
Siblings
MELAS Syndrome
Leber's Hereditary Optic Atrophy
Mothers
Phenotype
Muscles
Genes

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)
  • Genetics
  • Medicine(all)

Cite this

Negishi, Y., Hattori, A., Takeshita, E., Sakai, C., Ando, N., Ito, T., ... Saitoh, S. (2014). Homoplasmy of a mitochondrial 3697G >A mutation causes Leigh syndrome. Journal of Human Genetics, 59(7), 405-407. https://doi.org/10.1038/jhg.2014.41
Negishi, Yutaka ; Hattori, Ayako ; Takeshita, Eri ; Sakai, Chika ; Ando, Naoki ; Ito, Tetsuya ; Goto, Yu Ichi ; Saitoh, Shinji. / Homoplasmy of a mitochondrial 3697G >A mutation causes Leigh syndrome. In: Journal of Human Genetics. 2014 ; Vol. 59, No. 7. pp. 405-407.
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Negishi, Y, Hattori, A, Takeshita, E, Sakai, C, Ando, N, Ito, T, Goto, YI & Saitoh, S 2014, 'Homoplasmy of a mitochondrial 3697G >A mutation causes Leigh syndrome', Journal of Human Genetics, vol. 59, no. 7, pp. 405-407. https://doi.org/10.1038/jhg.2014.41

Homoplasmy of a mitochondrial 3697G >A mutation causes Leigh syndrome. / Negishi, Yutaka; Hattori, Ayako; Takeshita, Eri; Sakai, Chika; Ando, Naoki; Ito, Tetsuya; Goto, Yu Ichi; Saitoh, Shinji.

In: Journal of Human Genetics, Vol. 59, No. 7, 01.01.2014, p. 405-407.

Research output: Contribution to journalArticle

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