What's in a name? RPGR mutations redefine the genetic and phenotypic landscape in retinal degenerative diseases

Investigative Ophthalmology and Visual Science

Volumn 54, Issue 2, 2013, Pages 1417-

  Swaroop, Anand ^a  

^a NATIONAL EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

RHODOPSIN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; GENE; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; RETINA DEGENERATION; RETINA MACULA DEGENERATION; RETINITIS PIGMENTOSA; RETINITIS PIGMENTOSA GUANOSINE TRIPHOSPHATASE REGULATOR GENE;

DNA; EYE PROTEINS; FEMALE; GENES, X-LINKED; GENETIC DISEASES, X-LINKED; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; MUTATION; RETINITIS PIGMENTOSA;

EID: 84874964743     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.13-11750     Document Type: Article

References (6)

1. Shu X, McDowall E, Brown AF, Wright AF. The human retinitis pigmentosa GTPase regulator gene variant database. Hum Mutat. 2008; 29:605-608.
2. Rachel RA, Li T, Swaroop A. Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins. Cilia. 2012;1:22.
3. Branham K, Othman M, Brumm M, et al. Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. Invest Ophthalmol Vis Sci. 2012;53:8232-8237.
4. Churchill JD, Bowne SJ, Sullivan LS, et al. Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2013;54:1411-1416.
5. Bowne SJ, Sullivan LS, Koboldt DC, et al. Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing. Invest Ophthalmol Vis Sci. 2011;52:494-503.
6. Beltran WA, Cideciyan AV, Lewin AS, et al. Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa. Proc Natl Acad Sci U S A. 2012;109:2132-2137.