A case report on a novel MT-ATP6 gene variation in atypical mitochondrial Leigh syndrome associated with bilateral basal ganglia calcifications

Mitochondrion. 2019 May;46:209-213. doi: 10.1016/j.mito.2018.06.005. Epub 2018 Jun 19.


Leigh Syndrome (LS) is a rare, hereditary progressive neurodegenerative disorder of infancy or early childhood associated with a highly variable clinical presentation even among siblings. Further, genetic heterogeneity makes its diagnosis complicated. Its causative genetic variations are notified in some of the mitochondrial and nuclear genes. Here, we report an atypical case of LS in a 9-year-old boy associated with a novel variation in MT-ATP6 gene. The atypical findings were Bilateral Basal Ganglia Calcification (BGC) and late survival age in the patient. Analyses of the Whole Mitochondrial Genome Sequencing (WMGS) results of the recruited patient and his mother at different read coverage, first at 100× and later repeated at 500×, revealed a novel disease-associated variation in the already known disease-associated MT-ATP6 gene. In conclusion, the present study indicates amalgamation of both neuro-imaging and Next Generation Sequencing (NGS) Technologies aiding the proper diagnosis of LS in atypical cases.

Keywords: Atypical; Basal ganglia calcification; Heterogeneity; Leigh syndrome; MT-ATP6; Neuro-imaging.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Basal Ganglia / pathology*
  • Calcinosis*
  • Child
  • Genome, Mitochondrial
  • Humans
  • Leigh Disease / diagnosis*
  • Leigh Disease / genetics
  • Leigh Disease / pathology*
  • Male
  • Mitochondrial Proton-Translocating ATPases / genetics*
  • Polymorphism, Single Nucleotide*
  • Sequence Analysis, DNA


  • MT-ATP6 protein, human
  • Mitochondrial Proton-Translocating ATPases