Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: an example of phenotypic mimicry?

Am J Med Genet. 1991 Dec 1;41(3):301-5. doi: 10.1002/ajmg.1320410308.


Lowe oculocerebrorenal syndrome is an X-linked recessive disease whose locus has been assigned to Xp25. However, several reports of affected females without obvious chromosomal abnormalities suggest genetic heterogeneity of the Lowe phenotype. Although the biochemical defect in typical Lowe syndrome is not known, there is evidence suggesting that mitochondrial metabolism may be impaired. We have studied a girl who presented with an oculocerebrorenal syndrome, but later developed symptoms and signs of mitochondrial encephalomyopathy. Molecular genetic analysis of muscle mitochondrial DNA showed the presence of a population of partially deleted mtDNAs (heteroplasmy). The deletion was 7803 bp long and encompassed several genes encoding subunits of the respiratory chain enzymes. Our results suggest that mitochondrial DNA deletions may mimic several symptoms of the Lowe phenotype and reinforce the concept that a defect of mitochondrial metabolism could be involved in the pathogenesis of the X-linked disease.

Publication types

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

MeSH terms

  • Base Sequence
  • Blotting, Southern
  • Child
  • Chromosome Deletion*
  • DNA, Mitochondrial / genetics*
  • Female
  • Genetic Linkage / genetics
  • Humans
  • Kearns-Sayre Syndrome / genetics*
  • Oculocerebrorenal Syndrome / genetics*
  • Phenotype
  • Polymerase Chain Reaction
  • X Chromosome


  • DNA, Mitochondrial