Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy

Am J Hum Genet. 1992 Oct;51(4):741-8.


Leber hereditary optic neuropathy (LHON) is associated with mutations of mtDNA, but two features of LHON pedigrees are not explicable solely on the basis of mitochondrial inheritance. There is a large excess of affected males, and not all males at risk develop the disease. These observations could be explained by the existence of an X-linked visual loss susceptibility gene. This hypothesis was supported by linkage studies in Finland, placing the susceptibility locus at DXS7, with a maximum lod score of 2.48 at a recombination fraction of 0. Linkage studies in 1 Italian and 12 British families with LHON, analyzed either together or separately depending on the associated mtDNA mutation, have excluded the presence of such a locus from an interval of about 30 cM around DXS7 in these kindreds, with a total lod score of -26.51 at a recombination fraction of 0.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosome Mapping
  • DNA / blood
  • DNA, Mitochondrial / blood
  • DNA, Mitochondrial / genetics*
  • DNA, Mitochondrial / isolation & purification
  • England
  • Female
  • Genetic Linkage
  • Genetic Predisposition to Disease
  • Humans
  • Italy
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Oligodeoxyribonucleotides
  • Optic Atrophies, Hereditary / genetics*
  • Optic Atrophies, Hereditary / physiopathology
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Vision Disorders / etiology
  • Vision Disorders / genetics*
  • X Chromosome*


  • DNA, Mitochondrial
  • Oligodeoxyribonucleotides
  • DNA