Gene discovery and prevalence in inherited retinal dystrophies

Comptes Rendus - Biologies

Volumn 337, Issue 3, 2014, Pages 160-166

  Hamel, Christian P ^a  

^a HÔPITAL SAINT ELOI   (France)

Author keywords

Inherited retinal dystrophies; Leber congenital amaurosis; Macular dystrophy; Molecular screening; Retinitis pigmentosa; Vitelliform macular dystrophy

Indexed keywords

GENE; MOLECULAR ANALYSIS; MUTATION; NERVOUS SYSTEM DISORDER; TEMPORAL PERIOD;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; DOMINANT INHERITANCE; FAMILY; GENE MUTATION; GENETIC SCREENING; HUMAN; PREVALENCE; RECESSIVE INHERITANCE; RETINA DYSTROPHY; RETINA MACULA VITELLIFORM DEGENERATION; RETINITIS PIGMENTOSA;

AMAUROSE CONGÉNITALE DE LEBER; CRIBLAGE MOLÉCULAIRE; DYSTROPHIE MACULAIRE; DYSTROPHIE VITELLIFORME MACULAIRE; DYSTROPHIES RÉTINIENNES HÉRÉDITAIRES; INHERITED RETINAL DYSTROPHIES; LEBER CONGENITAL AMAUROSIS; MACULAR DYSTROPHY; MOLECULAR SCREENING; RETINITIS PIGMENTOSA; RÉTINITE PIGMENTAIRE; VITELLIFORM MACULAR DYSTROPHY;

FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; LEBER CONGENITAL AMAUROSIS; MALE; MUTATION; PREVALENCE; RETINAL DYSTROPHIES; RETINITIS PIGMENTOSA;

EID: 84897991101     PISSN: 16310691     EISSN: 17683238     Source Type: Journal    
DOI: 10.1016/j.crvi.2013.12.001     Document Type: Short Survey

References (25)

1. B. Bocquet, A. Lacroux, M.O. Surget, C. Baudoin, V. Marquette, G. Manès, M. Hébrard, A. Sénéchal, C. Delettre, A.F. Roux, M. Claustres, C.M. Dhaenens, J.M. Rozet, I. Perrault, J.P. Bonnefont, J. Kaplan, H. Dollfus, D. Amati-Bonneau, P. Reynier, I. Audo, C. Zeitz, J.A. Sahel, V. Paquis-Fluckinger, P. Calvas, B. Arveiler, S. Kohl, B. Wissinger, C. Blanchet, I. Meunier, and C.P. Hamel Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management Ophthalmic Epidemiol. 20 2013 13 25
2. C.P. Hamel, E. Tsilou, B.A. Pfeffer, J.J. Hooks, B. Detrick, and T.M. Redmond Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro J. Biol. Chem. 268 1993 15751 15757
3. C.P. Hamel, N.A. Jenkins, D.J. Gilbert, N.G. Copeland, and T.M. Redmond The gene for the retinal pigment epithelium-specific protein RPE65 is localized to human 1p31 and mouse 3 Genomics 20 1994 509 512
4. F. Marlhens, C. Bareil, J.M. Griffoin, E. Zrenner, P. Amalric, C. Eliaou, S.Y. Liu, E. Harris, T.M. Redmond, B. Arnaud, M. Claustres, and C.P. Hamel Mutations in RPE65 cause Leber's congenital amaurosis Nat. Genet. 17 1997 139 141
5. F. Marlhens, J.-M. Griffoin, C. Bareil, B. Arnaud, M. Claustres, and C.P. Hamel Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene Eur. J. Hum. Genet. 6 1998 527 531
6. C.P. Hamel, J.-M. Griffoin, L. Laesquellec, C. Bazalgette, and B. Arnaud Retinal dystrophies caused by mutations in RPE65: assessment of visual functions Brit. J. Ophthalmol. 85 2001 424 427
7. M. Jin, S. Li, W.N. Moghrabi, H. Sun, and G.H. Travis Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium Cell 122 2005 449 459
8. G. Moiseyev, Y. Chen, Y. Takahashi, B.X. Wu, and J.X. Ma RPE65 is the isomerohydrolase in the retinoid visual cycle Proc. Natl. Acad. Sci. U S A 102 2005 12413 12418
9. T.M. Redmond, E. Poliakov, S. Yu, J.Y. Tsai, Z. Lu, and S. Gentleman Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle Proc. Natl. Acad. Sci. U S A 102 2005 13658 13663
10. T.J. Guignard, M. Jin, M.-O. Péquignot, S. Li, Y. Chassigneux, K. Chekroud, L. Guillou, E. Richard, C.P. Hamel, and P. Brabet FATP1 inhibits 11-cis retinol formation via interaction with the visual cycle retinoid isomerase RPE65 and lecithin: retinolacyl transferase J. Biol. Chem. 285 2010 18759 18768
11. D.A. Thompson, Y. Li, C.L. McHenry, T.J. Carlson, X. Ding, P.A. Sieving, E. Apfelstedt-Sylla, and A. Gal Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy Nat. Genet. 28 2001 123 124
12. A. Sénéchal, G. Humbert, M.-O. Surget, C. Bazalgette, C. Bazalgette, B. Arnaud, C. Arndt, E. Laurent, P. Brabet, and C.P. Hamel Screening genes of the retinoid metabolism: novel LRAT mutation in Leber congenital amaurosis Am. J. Ophthalmol. 142 2006 702 704
13. G. Humbert, C. Delettre, A. Sénéchal, C. Bazalgette, C. Bazalgette, B. Arnaud, G. Lenaers, and C.P. Hamel Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens Invest. Ophthalmol. Vis. Sci. 47 2006 4719 4724
14. E. Dessalces, B. Bocquet, J. Bourien, X. Zanlonghi, R. Verdet, I. Meunier, and C.P. Hamel Early onset foveal involvement in retinitis punctata albescens with mutations in RLBP1 JAMA Ophthalmol. 131 2013 1314 1323
15. M. Ksantini, A. Sénéchal, G. Humbert, B. Arnaud, and C.P. Hamel RRH, encoding the RPE-expressed opsin-like peropsin, is not mutated in retinitis pigmentosa and allied diseases Ophthalmic Genet. 28 2007 31 37
16. M. Ksantini, A. Sénéchal, B. Bocquet, I. Meunier, P. Brabet, and C.P. Hamel Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations Ophthalmic Genet. 31 2010 200 204
17. G. Manes, M. Hébrard, B. Bocquet, I. Meunier, D. Coustes-Chazalette, A. Sénéchal, A. Bolland-Augé, D. Zelenika, and C.P. Hamel A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1 BMC Med. Genet. 12 2011 54
18. M. Ksantini, E. Lafont, B. Bocquet, I. Meunier, and C.P. Hamel Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa Eur. J. Ophthalmol. 22 2012 647 653
19. E. Lafont, G. Manes, A. Sénéchal, B. Bocquet, D. Coustès-Chazalette, C. Baudoin, M. Ksantini, J. Bourien, A. Devos, H. Dollfus, X. Zanlonghi, I. Meunier, C.M. Dhaenens, C.P. Hamel the French research group for autosomal dominant retinitis pigmentosa (Audo I., Behar-Cohen F., Defoort-Dhellemmes S., Dufier J.L., Journel H., Kaplan J., Le Meur G., Mohand-Saïd S., Odent S., Pelletier V., Puech B., Rozet J.M., Sahel J.A., Weber M., Zeitz C.) Patients with retinitis pigmentosa due to RP1 mutations show greater severity in recessive than in dominant cases J. Clin. Exp. Ophthalmol. 2 2011 12
20. M. Hébrard, G. Manès, B. Bocquet, I. Meunier, D. Coustes-Chazalette, A. Sénéchal, A. Bolland-Augé, D. Zelenika, and C.P. Hamel Combining gene mapping and phenotype assessment leads to rapid mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families Eur. J. Hum. Genet. 19 2011 1256 1263
21. B. Bocquet, N.A. Marzouka, M. Hébrard, G. Manes, A. Sénéchal, I. Meunier, and C.P. Hamel Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations Mol. Vis. 19 2013 2487 2500
22. C.J.F. Boon, B.J. Klevering, A.I. den Hollander, M.N. Zonneveld, T. Theelen, F.P.M. Cremers, and C.B. Hoyng Clinical and genetic heterogeneity in multifocal vitelliform dystrophy Arch. Ophthalmol. 125 2007 1100 1106
23. I. Meunier, A. Sénéchal, C.M. Dhaenens, C. Arndt, B. Puech, S. Defoort-Dhellemmes, G. Manes, D. Chazalette, E. Mazoir, B. Bocquet, and C.P. Hamel Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis Ophthalmology 118 2011 1130 1136
24. M.M. Sohocki, L.S. Sullivan, H.A. Mintz-Hittner, K. Small, R.E. Ferrell, and S.P. Daiger Exclusion of atypical vitelliform macular dystrophy from 8q24.3 and from other known macular degenerative loci Am. J. Hum. Genet. 61 1997 239 241
25. G. Manes, I. Meunier, A. Avila-Fernandez, S. Banfi, G. Le Meur, X. Zanlonghi, M. Corton, F. Simonelli, P. Brabet, G. Labesse, I. Audo, S. Mohand-Said, C. Zeitz, J.A. Sahel, M. Weber, H. Dollfus, C.M. Dhaenens, D. Allorge, E. De Baere, R.K. Koenekoop, S. Kohl, F.P.M. Cremers, J.G. Hollyfield, A. Sénéchal, M. Hébrard, B. Bocquet, C. Ayuso Garcia, and C.P. Hamel Mutations in IMPG1 cause vitelliform macular dystrophies Am. J. Hum. Genet. 93 2013 571 578