An unusual retinal phenotype associated with a novel mutation in RHO

Archives of Ophthalmology

Volumn 128, Issue 8, 2010, Pages 1036-1045

  Audo, Isabelle ^a,b,c,d,e   Friedrich, Anne ^f   Mohand Saïd, Saddek ^a,b,c,d   Lancelot, Marie Elise ^a,b,c   Antonio, Aline ^a,b,c   Moskova Doumanova, Veselina ^a,b,c   Poch, Olivier ^f   Bhattacharya, Shomi ^a,b,c,e   Sahel, José Alain ^a,b,c,d   Zeitz, Christina ^a,b,c  

^a INSERM   (France)

^b INSTITUT DE LA VISION   (France)

^c CNRS   (France)

^d CENTRE HOSPITALIER NATIONAL D OPHTALMOLOGIE DES QUINZE VINGTS   (France)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

RHODOPSIN;

ADULT; ARTICLE; AUTOFLUORESCENCE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; COMPUTER MODEL; DYSTROPHY; ELECTRORETINOGRAPHY; EXON; FAMILY HISTORY; FEMALE; GENE AMPLIFICATION; GENE IDENTIFICATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTRON; MALE; MORPHOLOGICAL TRAIT; NUCLEOTIDE SEQUENCE; PERIMETRY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN FUNCTION; RETINA CONE; RETINA DEGENERATION; RETINA DISEASE; VISUAL ACUITY; VISUAL IMPAIRMENT;

ADULT; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EXONS; FEMALE; FLUORESCEIN ANGIOGRAPHY; GENES, DOMINANT; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PHOTORECEPTOR CELLS, VERTEBRATE; POLYMERASE CHAIN REACTION; RETINITIS PIGMENTOSA; RHODOPSIN; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VISUAL FIELDS; YOUNG ADULT;

EID: 77955447406     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archophthalmol.2010.162     Document Type: Article

References (53)

1. Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006;368(9549):1795-1809.
2. Mansergh FC, Millington-Ward S, Kennan A, et al. Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene. Am J Hum Genet. 1999;64(4):971-985.
3. Kajiwara K, Berson EL, Dryja TP. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science. 1994;264(5165):1604-1608. (Pubitemid 24227719)
4. Dryja TP, McGee TL, Hahn LB, et al. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N Engl J Med. 1990;323(19):1302-1307.
5. Dryja TP, McGee TL, Reichel E, et al. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature. 1990;343(6256):364-366.
6. Inglehearn CF, Bashir R, Lester DH, Jay M, Bird AC, Bhattacharya SS. A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa. Am J Hum Genet. 1991;48(1):26-30. (Pubitemid 21903021)
7. Sung CH, Davenport CM, Hennessey JC, et al. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A. 1991;88(15):6481-6485.
8. Nathans J, Hogness DS. Isolation and nucleotide sequence of the gene encoding human rhodopsin. Proc Natl Acad Sci U S A. 1984;81(15):4851-4855.
9. Stenkamp RE, Teller DC, Palczewski K. Rhodopsin: a structural primer for G-protein coupled receptors. Arch Pharm (Weinheim). 2005;338(5-6):209-216.
10. Greenberg J, Roberts L, Ramesar R. A rare homozygous rhodopsin splice-site mutation: the issue of when and whether to offer presymptomatic testing. Ophthalmic Genet. 2003;24(4):225-232.
11. Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet. 1992;1(3):209-213.
12. Kumaramanickavel G, Maw M, Denton MJ, et al. Missense rhodopsin mutation in a family with recessive RP. Nat Genet. 1994;8(1):10-11. (Pubitemid 24274052)
13. Zeitz C, Gross AK, Leifert D, et al. Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB. Invest Ophthalmol Vis Sci. 2008;49(9):4105-4114.
14. Dryja TP, Berson EL, Rao VR, Oprian DD. Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat Genet. 1993;4(3):280-283.
15. al-Jandal N, Farrar GJ, Kiang AS, et al. A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness. Hum Mutat. 1999;13(1):75-81.
16. Rao VR, Cohen GB, Oprian DD. Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness. Nature. 1994;367(6464):639-642.
17. Cideciyan AV, Hood DC, Huang Y, et al. Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man. Proc Natl Acad Sci U S A. 1998;95(12):7103-7108.
18. Kaushal S, Khorana HG. Structure and function in rhodopsin, 7: point mutations associated with autosomal dominant retinitis pigmentosa. Biochemistry. 1994;33(20):6121-6128. (Pubitemid 24190763)
19. Mendes HF, van der Spuy J, Chapple JP, Cheetham ME. Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy. Trends Mol Med. 2005;11(4):177-185.
20. Sung CH, Davenport CM, Nathans J. Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa: clustering of functional classes along the polypeptide chain. J Biol Chem. 1993;268(35):26645-26649. (Pubitemid 23361747)
21. Sung CH, Schneider BG, Agarwal N, Papermaster DS, Nathans J. Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A. 1991;88(19):8840-8844.
22. Marmor MF, Holder GE, Seeliger MW, Yamamoto S; International Society for Clinical Electrophysiology of Vision. Standard for clinical electroretinography (2004 update). Doc Ophthalmol. 2004;108(2):107-114.
23. Hood DC, Bach M, Brigell M, et al. ISCEV guidelines for clinical multifocal electroretinography (2007 edition). Doc Ophthalmol. 2008;116(1):1-11.
24. Neidhardt J, Barthelmes D, Farahmand F, Fleischhauer JC, Berger W. Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes. Invest Ophthalmol Vis Sci. 2006;47(4):1630-1635.
25. UniProt Consortium. The Universal Protein Resource (UniProt) 2009. Nucleic Acids Res. 2009;37(database issue):D169-D174. doi:10.1093/nar/gkn664.
26. Altschul SF, Madden TL, Schaffer AA, et al. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res. 1997;25(17):3389-3402.
27. Plewniak F, Bianchetti L, Brelivet Y, et al. PipeAlign: a new toolkit for protein family analysis. Nucleic Acids Res. 2003;31(13):3829-3832.
28. Eswar N, Eramian D, Webb B, Shen MY, Sali A. Protein structure modeling with MODELLER. Methods Mol Biol. 2008;426:145-159.
29. Eramian D, Eswar N, Shen MY, Sali A. How well can the accuracy of comparative protein structure models be predicted? Protein Sci. 2008;17(11):1881-1893.
30. Berson EL, Howard J. Temporal aspects of the electroretinogram in sector retinitis pigmentosa. Arch Ophthalmol. 1971;86(6):653-665.
31. Abraham FA. Sector retinitis pigmentosa: electrophysiological and psychophysical study of the visual system. Doc Ophthalmol. 1975;39(1):13-28.
32. Marmor MF. The electroretinogram in retinitis pigmentosa. Arch Ophthalmol. 1979;97(7):1300-1304.
33. Farrar GJ, Findlay JB, Kumar-Singh R, et al. Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family. Hum Mol Genet. 1992;1(9):769-771.
34. Li J, Edwards PC, Burghammer M, Villa C, Schertler GF. Structure of bovine rhodopsin in a trigonal crystal form. J Mol Biol. 2004;343(5):1409-1438. (Pubitemid 39387834)
35. Saam J, Tajkhorshid E, Hayashi S, Schulten K. Molecular dynamics investigation of primary photoinduced events in the activation of rhodopsin. Biophys J. 2002;83(6):3097-3112.
36. Crocker E, Eilers M, Ahuja S, et al. Location of Trp265 in metarhodopsin II: implications for the activation mechanism of the visual receptor rhodopsin. J Mol Biol. 2006;357(1):163-172.
37. Fishman GA, Stone EM, Sheffield VC, Gilbert LD, Kimura AE. Ocular findings associated with rhodopsin gene codon 17 and codon 182 transition mutations in dominant retinitis pigmentosa. Arch Ophthalmol. 1992;110(1):54-62.
38. Kranich H, Bartkowski S, Denton MJ, et al. Autosomal dominant "sector" retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin. Hum Mol Genet. 1993;2(6):813-814.
39. Heckenlively JR, Rodriguez JA, Daiger SP. Autosomal dominant sectoral retinitis pigmentosa: two families with transversion mutation in codon 23 of rhodopsin. Arch Ophthalmol. 1991;109(1):84-91.
40. Stone EM, Kimura AE, Nichols BE, Khadivi P, Fishman GA, Sheffield VC. Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene. Ophthalmology. 1991;98(12):1806-1813.
41. To K, Adamian M, Dryja TP, Berson EL. Histopathologic study of variation in severity of retinitis pigmentosa due to the dominant rhodopsin mutation Pro23His. Am J Ophthalmol. 2002;134(2):290-293. (Pubitemid 34831845)
42. Fishman GA, Stone EM, Gilbert LD, Kenna P, Sheffield VC. Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa. Arch Ophthalmol. 1991;109(10):1387-1393.
43. Moore AT, Fitzke FW, Kemp CM, et al. Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutation. Br J Ophthalmol. 1992;76(8):465-469.
44. Inglehearn CF, Keen TJ, Bashir R, et al. A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa. Hum Mol Genet. 1992;1(1):41-45.
45. Paskowitz DM, LaVail MM, Duncan JL. Light and inherited retinal degeneration. Br J Ophthalmol. 2006;90(8):1060-1066.
46. Bass SJ, Noble KG. Autosomal dominant pericentral retinochoroidal atrophy. Retina. 2006;26(1):71-79.
47. Bass SJ, Noble KGA. Thr17Met mutation is associated with an unusual retino-choroidopathy in an autosomal dominant pedigree. Retina. 2008;28(7):1013-1014.
48. Jacobson SG, Cideciyan AV, Sumaroka A, et al. Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1)mutations. Invest Ophthalmol Vis Sci. 2006;47(9):4113-4120.
49. MacDonald IM, Russell L, Chan CC. Choroideremia: new findings from ocular pathology and review of recent literature. Surv Ophthalmol. 2009;54(3):401-407.
50. Syed N, Smith JE, John SK, Seabra MC, Aguirre GD, Milam AH. Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia. Ophthalmology. 2001;108(4):711-720.
51. Seabra MC, Mules EH, Hume AN. Rab GTPases, intracellular traffic and disease. Trends Mol Med. 2002;8(1):23-30.
52. Sieving PA, Richards JE, Naarendorp F, Bingham EL, Scott K, Alpern M. Darklight: model for nightblindness from the human rhodopsin Gly-90→Asp mutation. Proc Natl Acad Sci U S A. 1995;92(3):880-884.
53. Aguilà M, Toledo D, Morillo M, et al. Structural coupling of 11-cis-7-methylretinal and amino acids at the ligand binding pocket of rhodopsin. Photochem Photobiol. 2009;85(2):485-493.