Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290

Molecular Vision

Volumn 18, Issue , 2012, Pages 412-425

  Yzer, Suzanne ^a   den Hollander, Anneke I ^b   Lopez, Irma ^c   Pott, Jan Willem R ^d   de Faber, Jan Tjeerd H N ^a   Cremers, Frans P M ^b,e   Koenekoop, Robert K ^c   van den Born, L Ingeborgh ^a  

^a ROTTERDAM EYE HOSPITAL   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c MCGILL UNIVERSITY   (Canada)

^d UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CENTROSOMAL PROTEIN; CYTOPLASM PROTEIN; CYTOSINE; GUANINE; THYMINE; UNCLASSIFIED DRUG;

ACROCEPHALOSYNDACTYLY; ADULT; ALLELE; APHAKIA; ARTICLE; BONE SPICULE LIKE PIGMENTATION; CEP290 GENE; CHORIOCAPILLARY ATROPHY; CHORIORETINAL COLOBOMA; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; COATS LIKE EXUDATIVE VASCULOPATHY; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; ECHOGRAPHY; ECTATIC CORNEA; ENOPHTHALMOS; EPILEPSY; EPIPAPILLARY FIBROSIS; EYE DISEASE; EYE FUNDUS; EYE POKING; FEMALE; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE MUTATION; GENE PRODUCT; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETERODUPLEX ANALYSIS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPERMETROPIA; IRISH TRANSLUCENCY; KERATOCONUS; KIDNEY DYSFUNCTION; LEBER CONGENITAL AMAUROSIS; LENS LUXATION; MALE; MALE INFERTILITY; MENTAL DEFICIENCY; MOTOR DYSFUNCTION; MUTATIONAL ANALYSIS; MYOPIA; NIGHT BLINDNESS; NONSENSE MUTATION; NYSTAGMUS; OPHTHALMOSCOPY; PAPILLEDEMA; PHOTOPHOBIA; PINK OPTIC DISC; PRIORITY JOURNAL; PSEUDOPHAKIA; PSYCHOSIS; RETINA DETACHMENT; RETINAL PIGMENT EPITHELIUM ATROPHY; SEMEN ABNORMALITY; SEQUENCE ANALYSIS; SUBCAPSULAR CATARACT; TELANGIECTASIA; VISUAL ACUITY; VISUAL IMPAIRMENT; YELLOWISH SCLERAL RIM;

ADOLESCENT; ADULT; ANTIGENS, NEOPLASM; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EYE; FEMALE; FLUORESCEIN ANGIOGRAPHY; GENETIC ASSOCIATION STUDIES; HUMANS; INFERTILITY, MALE; LEBER CONGENITAL AMAUROSIS; MALE; MUTATION; NEOPLASM PROTEINS; TOMOGRAPHY, OPTICAL COHERENCE; YOUNG ADULT;

EID: 84857855950     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (37)

1. Franceschetti A. L'importance diagnostique de l'électrorétinogramme dans les dégénérescences tapéto- rétiniennes avec rétrécissement du champ visuel et héméralopie. Conf Neurol 1954;14:184-6.
2. Leber T. Über Retinitis Pigmentosa und angeborene Amaurose. Graefes Arch Klin Exp Ophthalmol 1869; 15:1-25.
3. Stone EM. Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. Am J Ophthalmol 2007; 144:791-811. [PMID: 17964524]
4. Koenekoop RK. An overview of Leber congenital amaurosis: a model to understand human retinal development. Surv Ophthalmol 2004; 49:379-98. [PMID: 15231395]
5. den Hollander AI, Roepman R, Koenekoop RK, Cremers FPM. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res 2008; 27:391-419. [PMID: 18632300]
6. Wang H, den Hollander AI, Moayedi Y, Abulimiti A, Li Y, Collin RW, Hoyng CB, Lopez I, Abboud EB, Al-Rajhi AA, Bray M, Lewis RA, Lupski JR, Mardon G, Koenekoop RK, Chen R. Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. Am J Hum Genet 2009; 84:380-7. [PMID: 19268277]
7. den Hollander AI, Koenekoop RK, Yzer S, Lopez I, Arends ML, Voesenek KE, Zonneveld MN, Strom TM, Meitinger T, Brunner HG, Hoyng CB, van den Born LI, Rohrschneider K, Cremers FP. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet 2006; 79:556-61. [PMID: 16909394]
8. Perrault I, Delphin N, Hanein S, Gerber S, Dufier JL, Roche O, Defoort-Dhellemmes S, Dollfus H, Fazzi E, Munnich A, Kaplan J, Rozet JM. Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat 2007; 28:416. [PMID: 17345604]
9. Chang B, Khanna H, Hawes N, Jimeno D, He S, Lillo C, Parapuram SK, Cheng H, Scott A, Hurd RE, Sayer JA, Otto EA, Attanasio M, O'Toole JF, Jin G, Shou C, Hildebrandt F, Williams DS, Heckenlively JR, Swaroop A. In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet 2006; 15:1847-57. [PMID: 16632484]
10. Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet 2006; 38:674-81. [PMID: 16682973]
11. Valente EM, Silhavy JL, Brancati F, Barrano G, Krishnaswami SR, Castori M, Lancaster MA, Boltshauser E, Boccone L, Al-Gazali L, Fazzi E, Signorini S, Louie CM, Bellacchio E, International Joubert Syndrome Related Disorders Study Group. Bertini E, Dallapiccola B, Gleeson JG. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet 2006; 38:623-5. [PMID: 16682970]
12. Baala L, Audollent S, Martinovic J, Ozilou C, Babron MC, Sivanandamoorthy S, Saunier S, Salomon R, Gonzales M, Rattenberry E, Esculpavit C, Toutain A, Moraine C, Parent P, Marcorelles P, Dauge MC, Roume J, Le Merrer M, Meiner V, Meir K, Menez F, Beaufrère AM, Francannet C, Tantau J, Sinico M, Dumez Y, MacDonald F, Munnich A, Lyonnet S, Gubler MC, Génin E, Johnson CA, Vekemans M, Encha- Razavi F, Attié-Bitach T. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet 2007; 81:170-9. [PMID: 17564974]
13. Frank V, den Hollander AI, Brüchle NO, Zonneveld MN, Nürnberg G, Becker C, Du Bois G, Kendziorra H, Roosing S, Senderek J, Nürnberg P, Cremers FP, Zerres K, Bergmann C. Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Hum Mutat 2008; 29:45-52. [PMID: 17705300]
14. Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet- Biedl syndrome. Nat Genet 2008; 40:443-8. [PMID: 18327255]
15. Coppieters F, Casteels I, Meire F, De Jaegere S, Hooghe S, van Regemorter N, Van Esch H, Matuleviciene A, Nunes L, Meersschaut V, Walraedt S, Standaert L, Coucke P, Hoeben H, Kroes HY, Vande Walle J, de Ravel T, Leroy BP, De Baere E. Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. Hum Mutat 2010; 31:E1709-66. misctextPMID: 20683928/misctext
16. Pasadhika S, Fishman GA, Stone EM, Lindeman M, Zelkha R, Lopez I, Koenekoop RK, Shahidi M. Differential Macular Morphology in Patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-Related Leber Congenital Amaurosis. Invest Ophthalmol Vis Sci 2010; 51:2608-14. [PMID: 19959640]
17. Littink KW, Pott JW, Collin RW, Kroes HY, Verheij JB, Blokland EA, de Castro Miró M, Hoyng CB, Klaver CC, Koenekoop RK, Rohrschneider K, Cremers FP, van den Born LI, den Hollander AI. A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype. Invest Ophthalmol Vis Sci 2010; 51:3646-52. [PMID: 20130272]
18. McEwen DP, Koenekoop RK, Khanna H, Jenkins PM, Lopez I, Swaroop A, Martens JR. Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons. Proc Natl Acad Sci USA 2007; 104:15917-22. [PMID: 17898177]
19. Papon JF, Perrault I, Coste A, Louis B, Gérard X, Hanein S, Fares-Taie L, Gerber S, Defoort-Dhellemmes S, Vojtek AM, Kaplan J, Rozet JM, Escudier E. Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations. J Med Genet 2010; 47:829-34. [PMID: 20805370]
20. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16:1215. [PMID: 3344216]
21. Marmor MF, Holder GE, Seeliger MW, Yamamoto S. Standard for clinical electroretinography (2004 update). Doc Ophthalmol 2004; 108:107-14. [PMID: 15455793]
22. Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D, Calvas P, Dollfus H, Hamel C, Lopponen T, Munier F, Santos L, Shalev S, Zafeiriou D, Dufier JL, Munnich A, Rozet JM, Kaplan J. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat 2004; 23:306-17. [PMID: 15024725]
23. Yzer S, Leroy BP, De Baere E, de Ravel TJ, Zonneveld MN, Voesenek K, Kellner U, Ciriano JP, de Faber JT, Rohrschneider K, Roepman R, den Hollander AI, Cruysberg JR, Meire F, Casteels I, van Moll-Ramirez NG, Allikmets R, van den Born LI, Cremers FP. Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. Invest Ophthalmol Vis Sci 2006; 47:1167-76. [PMID: 16505055]
24. Cideciyan AV, Aleman TS, Jacobson SG, Khanna H, Sumaroka A, Aguirre GK, Schwartz SB, Windsor EA, He S, Chang B, Stone EM, Swaroop A. Centrosomal-ciliary gene CEP290/ NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis. Hum Mutat 2007; 28:1074-83. [PMID: 17554762]
25. Heckenlively JR. Retinitis Pigmentosa. Philadelphia: JB Lippincott Company; 1988. p 86.
26. den Hollander AI, Heckenlively JR, van den Born LI, de Kok YJ, van der Velde-Visser SD, Kellner U, Jurklies B, van Schooneveld MJ, Blankenagel A, Rohrschneider K, Wissinger B, Cruysberg JR, Deutman AF, Brunner HG, Apfelstedt-Sylla E, Hoyng CB, Cremers FP. Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. Am J Hum Genet 2001; 69:198-203. [PMID: 11389483]
27. Khan JA, Ide CH, Strickland MP. Coats'-type retinitis pigmentosa. Surv Ophthalmol 1988; 32:317-32. [PMID: 2457260]
28. Schuman JS, Lieberman KV, Friedman AH, Berger M, Schoeneman MJ. Senior-Loken syndrome (familial renal-retinal dystrophy) and Coats' disease. Am J Ophthalmol 1985; 100:822-7. [PMID: 4073180]
29. Lindhout D, Barth PG, Valk J, Boen-Tan TN. The Joubert syndrome associated with bilateral chorioretinal coloboma. Eur J Pediatr 1980; 134:173-6. [PMID: 7439204]
30. Hunter DG, Fishman GA, Kretzer FL. Abnormal axonemes in X-linked retinitis pigmentosa. Arch Ophthalmol 1988; 106:362-8. [PMID: 3345154]
31. Hunter DG, Fishman GA, Mehta RS, Kretzer FL. Abnormal sperm and photoreceptor axonemes in Usher's syndrome. Arch Ophthalmol 1986; 104:385-9. [PMID: 3954639]
32. Adams NA, Awadein A, Toma HS. The retinal ciliopathies. Ophthalmic Genet 2007; 28:113-25. [PMID: 17896309]
33. Brunner S, Colman D, Travis AJ, Luhmann UF, Shi W, Feil S, Imsand C, Nelson J, Grimm C, Rülicke T, Fundele R, Neidhardt J, Berger W. Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly. Biol Reprod 2008; 79:608-17. [PMID: 18579752]
34. Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, MacDonald I, Muzny DM, Wheeler DA, Morgan M, Lewis LR, Logan CV, Tan PL, Beer MA, Inglehearn CF, Lewis RA, Jacobson SG, Bergmann C, Beales PL, Attié-Bitach T, Johnson CA, Otto EA, Bhattacharya SS, Hildebrandt F, Gibbs RA, Koenekoop RK, Swaroop A, Katsanis N. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet 2009; 41:739-45. [PMID: 19430481]
35. Bainbridge JW, Smith AJ, Barker SS, Robbie S, Henderson R, Balaggan K, Viswanathan A, Holder GE, Stockman A, Tyler N, Petersen-Jones S, Bhattacharya SS, Thrasher AJ, Fitzke FW, Carter BJ, Rubin GS, Moore AT, Ali RR. Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med 2008; 358:2231-9. [PMID: 18441371]
36. Maguire AM, Simonelli F, Pierce EA, Pugh EN Jr, Mingozzi F, Bennicelli J, Banfi S, Marshall KA, Testa F, Surace EM, Rossi S, Lyubarsky A, Arruda VR, Konkle B, Stone E, Sun J, Jacobs J, Dell'Osso L, Hertle R, Ma JX, Redmond TM, Zhu X, Hauck B, Zelenaia O, Shindler KS, Maguire MG, Wright JF, Volpe NJ, McDonnell JW, Auricchio A, High KA, Bennett J. Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med 2008; 358:2240-8. [PMID: 18441370]
37. Hauswirth WW, Aleman TS, Kaushal S, Cideciyan AV, Schwartz SB, Wang L, Conlon TJ, Boye SL, Flotte TR, Byrne BJ, Jacobson SG. Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. Hum Gene Ther 2008; 19:979-90. [PMID: 18774912]