Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy.

@article{Chalmers1996EvidenceAA,
  title={Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy.},
  author={Richard M. Chalmers and M. Benjamin Davis and Mary G. Sweeney and Nicholas Wood and Anita E. Harding},
  journal={American journal of human genetics},
  year={1996},
  volume={59 1},
  pages={103-8}
}
Pedigree analysis of British families with Leber hereditary optic neuropathy (LHON) closely fits a model in which a pathogenic mtDNA mutation interacts with an X-linked visual loss susceptibility locus (VLSL). This model predicts that 60% of affected females will show marked skewing of X inactivation. Linkage analysis in British and Italian families with genetically proven LHON has excluded the presence of such a VLSL over 169 cM of the X chromosome both when all families were analyzed together… CONTINUE READING