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Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.

Human mutation - 1 Mar 2009

Escher Pascal, Gouras Peter, Roduit Raphaël, Tiab Leila, Bolay Sylvain, Delarive Tania, Chen Shiming, Tsai Chih-Cheng, Hayashi Masanori, Zernant Jana, Merriam Joanna E, Mermod Nicolas, Allikmets Rando, Munier Francis L, Schorderet Daniel F

Abstract excerpt

NR2E3, a photoreceptor-specific nuclear receptor (PNR), represses cone-specific genes and activates several rod-specific genes. In humans, mutations in NR2E3 have been associated with the recessively-inherited enhanced short-wavelength sensitive S-cone syndrome (ESCS) and, recently, with autosomal dominant (ad) retinitis pigmentosa (RP) (adRP). In the present work, we describe two additional families affected by...

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PMID: 19006237
DOI: 10.1002/humu.20858
PMCID: PMC3658139

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Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.PMID 19006237Read ↗

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Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.Semantic proximity Read ↗

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The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration.Semantic proximity Read ↗

Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX.Semantic proximity Read ↗

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