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

Sureka Thiagalingam¹, Terri L McGee, Richard G Weleber

¹Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA.

Ophthalmic Genetics

|September 27, 2007

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.

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