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H. Wu, M. Michaelides, S.E. Wilkie, V. Mester, G.E. Holder, A.C. Bird, A.T. Moore, D.M. Hunt, A.R. Webster; Exclusion of the Cone cGMP Phosphodiesterase Subunit Gene as a Cause of Cone Dystrophy With Supernormal Rod ERG . Invest. Ophthalmol. Vis. Sci. 2006;47(13):3289.
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To determine the disease gene causative of the specific retinal disorder, cone dystrophy with supernormal rod ERG, reported to be associated with the PDE6H gene in a previous study (Piri et al Ophthalmology 2005).
Six unrelated patients, of varied ethnicity, all showed reduced central vision, delayed and reduced cone ERGs and supernormal and delayed maximal ERGs, as described previously in this condition. Direct sequencing of the coding region and 5' UTR of the gene encoding cone cGMP phosphodiesterase γ subunit (PDE6H) was performed. In addition, two flanking short tandem repeat markers and two intragenic SNP markers of the PDE6H gene were typed in one consanguineous families with six affected subjects across two generations.
No mutations were detected in the coding region, the intron–exon boundaries or in the 5’UTR region of the PDE6H gene in any of the six affected individuals. The specific G–>C transversion reported by Piri et al was not present in our panel. Different haplotypes surrounding the PDE6H gene were detected in the six affected individuals of one family, excluding the gene as the cause of disease.
PDE6H is not the causative gene for cone dystrophy with supernormal rod ERG in our study sample. Further whole genome linkage analysis of one large consanguineous family might determine the chromosomal locus for this disorder.
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