title: Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.
abstract: OBJECTIVE
  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.
authors: Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA.
authors: Sureka
authors: S
authors: Thiagalingam
authors: Terri L
authors: TL
authors: McGee
authors: Richard G
authors: RG
authors: Weleber
authors: Michael A
authors: MA
authors: Sandberg
authors: Karmen M
authors: KM
authors: Trzupek
authors: Eliot L
authors: EL
authors: Berson
authors: Thaddeus P
authors: TP
authors: Dryja
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D001483:Base Sequence; D002648:Child; D004596:Electroretinography; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D024642:Potassium Channels, Voltage-Gated / Q000235:genetics*; D012162:Retinal Degeneration / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D017948:Retinal Rod Photoreceptor Cells / Q000503:physiopathology*
chemical_list: C489610:KCNV2 protein, human; D024642:Potassium Channels, Voltage-Gated