Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation.

@article{Bykhovskaya1998EvidenceFC,
  title={Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation.},
  author={Yelena Bykhovskaya and Mordechai Shohat and K Ehrenman and David Johnson and Maureen Hamon and Rita M. Cantor and B Aouizerat and Xingkuan Bu and Jerome I. Rotter and Lutfi Jaber and Nathan Fischel-Ghodsian},
  journal={American journal of medical genetics},
  year={1998},
  volume={77 5},
  pages={421-6}
}
The relationship between mitochondrial genotype and clinical phenotype is complicated in most instances by the heteroplasmic nature of pathogenic mitochondrial mutations. We have previously shown that maternally inherited hearing loss in a large Arab-Israeli kindred is due to the homoplasmic A1555G mutation in the mitochondrial 12S ribosomal RNA gene [Prezant et al., 1993: Nat Genet 4:289-294]. Family members with this mutation have phenotypes ranging from profound hearing loss to completely… CONTINUE READING