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

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

Author information

  • 1Ocular 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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