Ophthalmic Genet. 2007 Sep;28(3):135-42.

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

Thiagalingam S, McGee TL, Weleber RG, Sandberg MA, Trzupek KM, Berson EL, Dryja TP.

Source

Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA.

Erratum in

Ophthalmic Genet. 2007 Dec;28(4):231.

Abstract

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.

PMID:: 17896311; [PubMed - indexed for MEDLINE]

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