Referenced in: none

Automatically associated channels: Kv8.2

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

Authors: Sureka Thiagalingam, Terri L McGee, Richard G Weleber, Michael A Sandberg, Karmen M Trzupek, Eliot L Berson, Thaddeus P Dryja

Journal, date & volume: Ophthalmic Genet., 2007 Sep , 28, 135-42

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/17896311

Abstract
To identify mutations in KCNV2 in patients with a form of cone dystrophy characterized by a supernormal rod electroretinogram (ERG).The 2 exons and flanking intron DNA of KCNV2 from 8 unrelated patients were PCR amplified and sequenced.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.KCNV2 mutations account for most if not all cases of cone dystrophy with a supernormal rod ERG.