Enhanced S-cone syndrome; ESCS

Disease ID:300
Name:Enhanced S-cone syndrome; ESCS
Associated with:1 target
Synonyms
Goldmann-Favre syndrome
Database Links
OMIM: 268100
Orphanet: ORPHA53540

Targets

PNR
Comments:  Several mutation affecting NR2E3 are associated with ESCS. A splice acceptor site mutation, an A-to-C transversion in the splice acceptor site of intron 1 of the NR2E3 gene, an arg76-to-trp missense mutation in the NR2E3 gene, caused by a C-to-T transition, an arg76-to-gln mutation resulting from a G-to-A transition and a. deletion of 9 bp of the NR2E3 gene, resulting in a 3-amino acid deletion (codons 67-69) in the NR2E3 protein. Other reports include NR2E3 Mutations (R104Q, R334G) Associated with a mild form of Enhanced S-Cone Syndrome. A potential Arg311Gln mutation in the NR2E3 gene has been identified in a family with classic Goldmann-Favre syndrome.
References:  1-3

Ligands

No ligand related data available for Enhanced S-cone syndrome; ESCS

References

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1. Chavala SH, Sari A, Lewis H, Pauer GJ, Simpson E, Hagstrom SA, Traboulsi EI. (2005) An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome. Br J Ophthalmol, 89 (8): 1065-6. [PMID:16024868]

2. Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, Wright AF, Stone EM, Sheffield VC. (2000) Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat. Genet., 24 (2): 127-31. [PMID:10655056]

3. Hayashi T, Gekka T, Goto-Omoto S, Takeuchi T, Kubo A, Kitahara K. (2005) Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity. Ophthalmology, 112 (12): 2115. [PMID:16225923]