2005
DOI: 10.1016/j.ophtha.2005.07.002
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Novel NR2E3 Mutations (R104Q, R334G) Associated with a Mild Form of Enhanced S-Cone Syndrome Demonstrate Compound Heterozygosity

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Cited by 35 publications
(29 citation statements)
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“…Atypical ESCS has been reported in which S-cone responses are enhanced, but, unusually, variable degrees of preserved rod responses were evident on ERG. 23,27,49 In 2 of these families, compound heterozygous NR2E3 mutations were found in association with a milder phenotype, but molecular screening was negative in a third family. The NR2E3 protein constitutes a DNA-binding domain (DBD) (amino acid residues 45-131) and a ligand-binding domain (LBD) (amino acid residues 222-410).…”
mentioning
confidence: 99%
“…Atypical ESCS has been reported in which S-cone responses are enhanced, but, unusually, variable degrees of preserved rod responses were evident on ERG. 23,27,49 In 2 of these families, compound heterozygous NR2E3 mutations were found in association with a milder phenotype, but molecular screening was negative in a third family. The NR2E3 protein constitutes a DNA-binding domain (DBD) (amino acid residues 45-131) and a ligand-binding domain (LBD) (amino acid residues 222-410).…”
mentioning
confidence: 99%
“…The hypersensitivity of S-cones in ESCS is due to a greater number of S-cones than the more normally abundant L or M-cones (Hood et al, 1995). In humans, different mutations in NR2E3 have been correlated with ESCS (Haider et al, 2000, Hayashi et al, 2005, Milam et al, 2002, Nakamura et al, 2002, Nakamura et al, 2004, Sharon et al, 2003, Wright et al, 2004, although mutations in NRL have also been correlated with ESCS (Wright et al, 2004). In many of the cases where the NR2E3 gene is mutated, an increased number of S-cones, retinal dysplasia and degeneration was observed (Haider et al, 2000).…”
mentioning
confidence: 99%
“…Genetic analysis was performed at the Department of Ophthalmology at The Jikei University as previously described [12,15]. Briefly, genomic DNA was extracted from venous blood samples using a Puregene Blood DNA Isolation kit (Gentra Systems, Minneapolis, MN).…”
Section: Molecular Genetic Studiesmentioning
confidence: 99%
“…Briefly, genomic DNA was extracted from venous blood samples using a Puregene Blood DNA Isolation kit (Gentra Systems, Minneapolis, MN). For mutation screening, all exons (exon 1 to exon 8) and the promoter region of the NR2E3 gene were amplified by polymerase chain reaction (PCR) using previously reported primers [12,15]. The PCR products were purified with a QIAquick PCR Purification kit (Qiagen, Tokyo, Japan) and used as the template for sequencing.…”
Section: Molecular Genetic Studiesmentioning
confidence: 99%
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