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Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa

Frauke Coppieters (UGent) , Bart Leroy (UGent) , DIANE BEYSEN (UGent) , JAN HELLEMANS (UGent) , Karolien De Bosscher (UGent) , Guy Haegeman (UGent) , KIRSTEN ROBBERECHT (UGent) , Wim Wuyts, Paul Coucke (UGent) and Elfride De Baere (UGent)
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Abstract
Autosomal dominant retinitis pigmentosa" (adRP) refers to a genetically heterogeneous group of retinal dystrophies, in which 54% of all cases can be attributed to 17 disease loci. Here, we describe the localization and identification of the photoreceptor cell-specific nuclear receptor gene NR2E3 as a novel disease locus and gene for adRP. A heterozygous mutation c. 166G -> A (p. Gly56Arg) was identified in the first zinc finger of NR2E3 in a large Belgian family affected with adRP. Overall, this missense mutation was found in 3 families affected with adRP among 87 unrelated families with potentially dominant retinal dystrophies ( 3.4%), of which 47 were affected with RP ( 6.4%). Interestingly, affected members of these families display a novel recognizable NR2E3-related clinical subtype of adRP. Other mutations of NR2E3 have previously been shown to cause autosomal recessive enhanced S-cone syndrome, a specific retinal phenotype. We propose a different pathogenetic mechanism for these distinct dominant and recessive phenotypes, which may be attributed to the dual key role of NR2E3 in the regulation of photoreceptor-specific genes during rod development and maintenance.
Keywords
VITAMIN-D-RECEPTOR, CONE PHOTORECEPTOR DEVELOPMENT, ANDROGEN RECEPTOR, RETINAL DEGENERATION, DEOXYRIBONUCLEIC-ACID, ROD PHOTORECEPTORS, BINDING DOMAIN, GENE, TRANSCRIPTION, NRL

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Chicago
Coppieters, Frauke, Bart Leroy, DIANE BEYSEN, JAN HELLEMANS, Karolien De Bosscher, Guy Haegeman, KIRSTEN ROBBERECHT, Wim Wuyts, Paul Coucke, and Elfride De Baere. 2007. “Recurrent Mutation in the First Zinc Finger of the Orphan Nuclear Receptor NR2E3 Causes Autosomal Dominant Retinitis Pigmentosa.” American Journal of Human Genetics 81 (1): 147–157.
APA
Coppieters, F., Leroy, B., BEYSEN, D., HELLEMANS, J., De Bosscher, K., Haegeman, G., ROBBERECHT, K., et al. (2007). Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. AMERICAN JOURNAL OF HUMAN GENETICS, 81(1), 147–157.
Vancouver
1.
Coppieters F, Leroy B, BEYSEN D, HELLEMANS J, De Bosscher K, Haegeman G, et al. Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. AMERICAN JOURNAL OF HUMAN GENETICS. 2007;81(1):147–57.
MLA
Coppieters, Frauke, Bart Leroy, DIANE BEYSEN, et al. “Recurrent Mutation in the First Zinc Finger of the Orphan Nuclear Receptor NR2E3 Causes Autosomal Dominant Retinitis Pigmentosa.” AMERICAN JOURNAL OF HUMAN GENETICS 81.1 (2007): 147–157. Print.
@article{374887,
  abstract     = {Autosomal dominant retinitis pigmentosa{\textacutedbl} (adRP) refers to a genetically heterogeneous group of retinal dystrophies, in which 54\% of all cases can be attributed to 17 disease loci. Here, we describe the localization and identification of the photoreceptor cell-specific nuclear receptor gene NR2E3 as a novel disease locus and gene for adRP. A heterozygous mutation c. 166G -{\textrangle} A (p. Gly56Arg) was identified in the first zinc finger of NR2E3 in a large Belgian family affected with adRP. Overall, this missense mutation was found in 3 families affected with adRP among 87 unrelated families with potentially dominant retinal dystrophies ( 3.4\%), of which 47 were affected with RP ( 6.4\%). Interestingly, affected members of these families display a novel recognizable NR2E3-related clinical subtype of adRP. Other mutations of NR2E3 have previously been shown to cause autosomal recessive enhanced S-cone syndrome, a specific retinal phenotype. We propose a different pathogenetic mechanism for these distinct dominant and recessive phenotypes, which may be attributed to the dual key role of NR2E3 in the regulation of photoreceptor-specific genes during rod development and maintenance.},
  author       = {Coppieters, Frauke and Leroy, Bart and BEYSEN, DIANE and HELLEMANS, JAN and De Bosscher, Karolien and Haegeman, Guy and ROBBERECHT, KIRSTEN and Wuyts, Wim and Coucke, Paul and De Baere, Elfride},
  issn         = {0002-9297},
  journal      = {AMERICAN JOURNAL OF HUMAN GENETICS},
  keyword      = {VITAMIN-D-RECEPTOR,CONE PHOTORECEPTOR DEVELOPMENT,ANDROGEN RECEPTOR,RETINAL DEGENERATION,DEOXYRIBONUCLEIC-ACID,ROD PHOTORECEPTORS,BINDING DOMAIN,GENE,TRANSCRIPTION,NRL},
  language     = {eng},
  number       = {1},
  pages        = {147--157},
  title        = {Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa},
  url          = {http://dx.doi.org/10.1086/518426},
  volume       = {81},
  year         = {2007},
}

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