Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram

Ophthalmic Genet. 2007 Sep;28(3):135-42. doi: 10.1080/13816810701503681.


Purpose: To identify mutations in KCNV2 in patients with a form of cone dystrophy characterized by a supernormal rod electroretinogram (ERG).

Methods: The 2 exons and flanking intron DNA of KCNV2 from 8 unrelated patients were PCR amplified and sequenced.

Results: We found 1 frameshift, 2 nonsense, 1 non-stop, and 6 missense mutations. Every patient had one or two mutations identified. Of the missense mutations, 4 affected residues were in the amino terminal region of the protein, and two in the pore region.

Conclusions: KCNV2 mutations account for most if not all cases of cone dystrophy with a supernormal rod ERG.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Substitution
  • Base Sequence
  • Child
  • Electroretinography*
  • Female
  • Frameshift Mutation
  • Humans
  • Male
  • Mutation*
  • Mutation, Missense
  • Pedigree
  • Potassium Channels, Voltage-Gated / genetics*
  • Retinal Degeneration / diagnosis*
  • Retinal Degeneration / genetics*
  • Retinal Degeneration / physiopathology
  • Retinal Rod Photoreceptor Cells / physiopathology*


  • KCNV2 protein, human
  • Potassium Channels, Voltage-Gated