Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.
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.
Thiagalingam
Sureka
S
Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA.
McGee
Terri L
TL
Weleber
Richard G
RG
Sandberg
Michael A
MA
Trzupek
Karmen M
KM
Berson
Eliot L
EL
Dryja
Thaddeus P
TP
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*
C489610:KCNV2 protein, human; D024642:Potassium Channels, Voltage-Gated