A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund.

@article{Wiik2008ADI,
  title={A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund.},
  author={Anne Caroline Wiik and Claire M. Wade and Tara Biagi and Ernst Otto Ropstad and Ellen Bjerk{\aa}s and Kerstin Lindblad-Toh and Frode Lingaas},
  journal={Genome research},
  year={2008},
  volume={18 9},
  pages={1415-21}
}
Cone-rod dystrophy is a retinal degenerative disorder occurring naturally in man and dog. Here we identify a novel gene for early-onset cone-rod dystrophy in the wire-haired dachshund. For the first time, we use genome-wide association-based Sibling Transmission Disequilibrium Test (sibTDT) analysis of only 13 discordant sib-pairs to identify a single significantly associated 6.5-Mb region (PrawTDT = 4.8 x 10(-5), PgenomeTDT = 6 x 10(-4)) on canine chromosome 5, containing more than 70 genes… CONTINUE READING