患有视锥细胞营养不良和超常视网膜电图的患者中KCNV2基因的新突变。
Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.
作者信息
Thiagalingam Sureka, McGee Terri L, Weleber Richard G, Sandberg Michael A, Trzupek Karmen M, Berson Eliot L, Dryja Thaddeus P
机构信息
Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA.
出版信息
Ophthalmic Genet. 2007 Sep;28(3):135-42. doi: 10.1080/13816810701503681.
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.
目的
在以超常视杆视网膜电图（ERG）为特征的某种形式的视锥营养不良患者中鉴定KCNV2基因的突变。
方法
对8名无亲缘关系患者的KCNV2基因的2个外显子及其侧翼内含子DNA进行PCR扩增并测序。
结果
我们发现了1个移码突变、2个无义突变、1个非终止突变和6个错义突变。每名患者均鉴定出1个或2个突变。在错义突变中，4个受影响的残基位于蛋白质的氨基末端区域，2个位于孔区域。
结论
KCNV2基因突变即使不能解释所有，也能解释大多数具有超常视杆ERG的视锥营养不良病例。
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