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

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

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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.

Original languageEnglish (US)
Pages (from-to)135-142
Number of pages8
JournalOphthalmic Genetics
Volume28
Issue number3
DOIs
Publication statusPublished - Jul 2007

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Keywords

  • Electroretinogram
  • Gene mutation
  • Retinal degeneration

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)

Cite this

Thiagalingam, S., McGee, T. L., Weleber, R., Sandberg, M. A., Trzupek, K. M., Berson, E. L., & Dryja, T. P. (2007). Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram. Ophthalmic Genetics, 28(3), 135-142. https://doi.org/10.1080/13816810701503681