Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations. [34, 11, 1537-1546, 10.1002/humu.22398];Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel lca5 mutations and new genotype-phenotype correlations

Human Mutation

Volumn 34, Issue 11, 2013, Pages 1537-1546

  Mackay, Donna S ^a,k   Borman, Arundhati Dev ^a,b,k   Sui, Ruifang ^c   van den Born, L Ingeborgh ^d   Berson, Eliot L ^e   Ocaka, Louise A ^a   Davidson, Alice E ^a   Heckenlively, John R ^f   Branham, Kari ^f   Ren, Huanan ^g   Lopez, Irma ^g   Maria, Maleeha ^h,i   Azam, Maleeha ^h,i   Henkes, Arjen ^h   Blokland, Ellen ^h   Andreasson, Sten ^k   de Baere, Elfride ^l   Bennett, Jean ^m   Chader, Gerald J ⁿ   Berger, Wolfgang ^o   Golovleva, Irina ^p   Greenberg, Jacquie ^q   den Hollander, Anneke I ^r   Klaver, Caroline C W ^s   Klevering, B Jeroen ^r   Lorenz, Birgit ^t   Preising, Markus N ^t   Ramsear, Raj ^q   Roberts, Lisa ^q   Roepman, Ronald ^u   Rohrschneider, Klaus ^v   Wissinger, Bernd ^w   Qamar, Raheel ^i,j   Webster, Andrew R ^a,b   Cremers, Frans P M ^h,l   Moore, Anthony T ^a,b,l   Koenekoop, Robert K ^g,l   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^d ROTTERDAM EYE HOSPITAL   (Netherlands)

^e MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

^f UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^g MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^h RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁱ COMSATS Institute of Information Technology ^*  (Pakistan)

^j ISRA UNIVERSITY   (Pakistan)

^k LUND UNIVERSITY HOSPITAL   (Sweden)

^l GHENT UNIVERSITY   (Belgium)

^m UNIVERSITY OF PENNSYLVANIA   (United States)

ⁿ UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^o UNIVERSITY OF ZURICH   (Switzerland)

^p UMEÅ UNIVERSITY   (Sweden)

^q UNIVERSITY OF CAPE TOWN   (South Africa)

^r RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^s ERASMUS MEDICAL CENTER   (Netherlands)

^t JUSTUS LIEBIG UNIVERSITY   (Germany)

^u RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^v UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^w UNIVERSITY OF TÜBINGEN   (Germany)

more..

Author keywords

Blindness; LCA; LCA5; Lebercilin; Retinal dystrophy; RP

Indexed keywords

LCA5 PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTOFLUORESCENCE IMAGING; CHILD; CLINICAL FEATURE; COHORT ANALYSIS; COMPUTER MODEL; EXON; GENE EXPRESSION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; INFANT; INTRON; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; OPTICAL COHERENCE TOMOGRAPHY; PATHOGENICITY; PHENOTYPE; PIGMENT EPITHELIUM; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; SCHOOL CHILD; SEGREGATION ANALYSIS; SEQUENCE ANALYSIS;

BLINDNESS; LCA; LCA5; LEBERCILIN; RETINAL DYSTROPHY; RP;

ADOLESCENT; ADULT; ALLELES; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; EYE PROTEINS; FEMALE; FLUORESCEIN ANGIOGRAPHY; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; LEBER CONGENITAL AMAUROSIS; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; RETINA; RETINITIS PIGMENTOSA; YOUNG ADULT;

EID: 84885427917     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22467     Document Type: Erratum

References (51)

1. Abu-Safieh L, Alrashed M, Anazi S, Alkuraya H, Khan AO, Al-Owain M, Al-Zahrani J, Al-Abdi L, Hashem M, Al-Tarimi S, Sebai MA, Shamia A, et al. 2013. Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res 23:236-247.
2. Ahmad A, Daud S, Kakar N, Nurnberg G, Nurnberg P, Babar ME, Thoenes M, Kubisch C, Ahmad J, Bolz HJ. 2011. Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts. Mol Vis 17:1940-1945.
3. Aldahmesh MA, Al-Owain M, Alqahtani F, Hazzaa S, Alkuraya FS. 2010. A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype. Mol Vis 16:207-212.
4. Berson EL, Rosner B, Sandberg MA, Hayes KC, Nicholson BW, Weigel-DiFranco C, Willett W. 1993. A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa. Arch Ophthalmol 111:761-772.
5. Boldt K, Mans DA, Won J, van Reeuwijk J, Vogt A, Kinkl N, Letteboer SJ, Hicks WL, Hurd RE, Naggert JK, Texier Y, den Hollander AI, et al. 2011. Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice. J Clin Invest 121:2169-2180.
6. Bowne SJ, Sullivan LS, Mortimer SE, Hedstrom L, Zhu J, Spellicy CJ, Gire AI, Hughbanks-Wheaton D, Birch DG, Lewis RA, Heckenlively JR, Daiger SP. 2006. Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. Invest Ophthalmol Vis Sci 47:34-42.
7. Chiang PW, Wang J, Chen Y, Fu Q, Zhong J, Yi X, Wu R, Gan H, Shi Y, Barnett C, Wheaton D, Day M, et al. 2012. Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. Nat Genet 44:972-974.
8. 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, et al. 2001. 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 69:198-203.
9. den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, et al. 2007. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet 39:889-895.
10. 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, et al. 2006. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet 79:556-561.
11. den Hollander AI, ten Brink JB, de Kok YJ, van Soest S, van den Born LI, van Driel MA, van de Pol DJ, Payne AM, Bhattacharya SS, Kellner U, Hoyng CB, Westerveld A, et al. 1999. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nat Genet 23:217-221.
12. Dharmaraj S, Li Y, Robitaille JM, Silva E, Zhu D, Mitchell TN, Maltby LP, Baffoe-Bonnie AB, Maumenee IH. 2000. A novel locus for Leber congenital amaurosis maps to chromosome 6q. Am J Hum Genet 66:319-326.
13. Dryja TP, Adams SM, Grimsby JL, McGee TL, Hong DH, Li T, Andreasson S, Berson EL. 2001. Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am J Hum Genet 68:1295-1298.
14. Estrada-Cuzcano A, Koenekoop RK, Coppieters F, Kohl S, Lopez I, Collin RW, De Baere EB, Roeleveld D, Marek J, Bernd A, Rohrschneider K, van den Born LI, et al. 2011. IQCB1 mutations in patients with leber congenital amaurosis. Invest Ophthalmol Vis Sci 52:834-839.
15. Falk MJ, Zhang Q, Nakamaru-Ogiso E, Kannabiran C, Fonseca-Kelly Z, Chakarova C, Audo I, Mackay DS, Zeitz C, Borman AD, Staniszewska M, Shukla R, et al. 2012. NMNAT1 mutations cause Leber congenital amaurosis. Nat Genet 44:1040-1045.
16. Flitcroft DI, Adams GG, Robson AG, Holder GE. 2005. Retinal dysfunction and refractive errors: an electrophysiological study of children. Br J Ophthalmol 89:484-488.
17. Foxman SG, Heckenlively JR, Bateman JB, Wirtschafter JD. 1985. Classification of congenital and early onset retinitis pigmentosa. Arch Ophthalmol 103:1502-1506.
18. Franceschetti A, Dieterle P. 1954. [Diagnostic and prognostic importance of the electroretinogram in tapetoretinal degeneration with reduction of the visual field and hemeralopia]. Confin Neurol 14(2-3):184-186.
19. Freund CL, Wang QL, Chen S, Muskat BL, Wiles CD, Sheffield VC, Jacobson SG, McInnes RR, Zack DJ, Stone EM. 1998. De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nat Genet 18:311-312.
20. Friedman JS, Chang B, Kannabiran C, Chakarova C, Singh HP, Jalali S, Hawes NL, Branham K, Othman M, Filippova E, Thompson DA, Webster AR, et al. 2006. Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. Am J Hum Genet 79:1059-1070.
21. Gal A, Li Y, Thompson DA, Weir J, Orth U, Jacobson SG, Apfelstedt-Sylla E, Vollrath D. 2000. Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. Nat Genet 26:270-271.
22. Gerber S, Hanein S, Perrault I, Delphin N, Aboussair N, Leowski C, Dufier JL, Roche O, Munnich A, Kaplan J, Rozet JM. 2007. Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II. Hum Mutat 28:1245.
23. Gu SM, Thompson DA, Srikumari CR, Lorenz B, Finckh U, Nicoletti A, Murthy KR, Rathmann M, Kumaramanickavel G, Denton MJ, Gal A. 1997. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat Genet 17:194-197.
24. Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D, Calvas P, Dollfus H, Hamel C, Lopponen T, Munier F, Santos L, et al. 2004. 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 23:306-317.
25. Heckenlively JR. 1982. Preserved para-arteriole retinal pigment epithelium (PPRPE) in retinitis pigmentosa. Br J Ophthalmol 66:26-30.
26. Heckenlively JR, Foxman SG, Parelhoff ES. 1988. Retinal dystrophy and macular coloboma. Doc Ophthalmol 68(3-4):257-271.
27. Jacobson SG, Aleman TS, Cideciyan AV, Sumaroka A, Schwartz SB, Windsor EA, Swider M, Herrera W, Stone EM. 2009. Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization. Mol Vis 15:1098-1106.
28. Janecke AR, Thompson DA, Utermann G, Becker C, Hubner CA, Schmid E, McHenry CL, Nair AR, Ruschendorf F, Heckenlively J, Wissinger B, Nurnberg P, et al. 2004. Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Nat Genet 36:850-854.
29. Koenekoop RK, Wang H, Majewski J, Wang X, Lopez I, Ren H, Chen Y, Li Y, Fishman GA, Genead M, Schwartzentruber J, Solanki N, et al. 2012. Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. Nat Genet 44:1035-1039.
30. Kriss A. 1994. Skin ERGs: their effectiveness in paediatric visual assessment, confounding factors, and comparison with ERGs recorded using various types of corneal electrode. Int J Psychophysiol 16(2-3):137-146.
31. Li L, Xiao X, Li S, Jia X, Wang P, Guo X, Jiao X, Zhang Q, Hejtmancik JF. 2011. Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. PloS One 6:e19458.
32. Littink KW, Pott JW, Collin RW, Kroes HY, Verheij JB, Blokland EA, de Castro Miro M, Hoyng CB, Klaver CC, Koenekoop RK, Rohrschneider K, Cremers FP, et al. 2010. A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype. Invest Ophthalmol Vis Sci 51:3646-3652.
33. Marlhens F, Bareil C, Griffoin JM, Zrenner E, Amalric P, Eliaou C, Liu SY, Harris E, Redmond TM, Arnaud B, Claustres M, Hamel CP. 1997. Mutations in RPE65 cause Leber's congenital amaurosis. Nat Genet 17:139-141.
34. Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, Bach M. 2009. ISCEV Standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol 118:69-77.
35. Miller SA, Dykes DD, Polesky HF. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
36. Mohamed MD, Topping NC, Jafri H, Raashed Y, McKibbin MA, Inglehearn CF. 2003. Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus. Br J Ophthalmol 87:473-475.
37. Morimura H, Fishman GA, Grover SA, Fulton AB, Berson EL, Dryja TP. 1998. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. Proc Natl Acad Sci USA 95:3088-3093.
38. Perrault I, Hanein S, Zanlonghi X, Serre V, Nicouleau M, Defoort-Delhemmes S, Delphin N, Fares-Taie L, Gerber S, Xerri O, Edelson C, Goldenberg A, et al. 2012. Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. Nat Genet 44:975-977.
39. Perrault I, Rozet JM, Calvas P, Gerber S, Camuzat A, Dollfus H, Chatelin S, Souied E, Ghazi I, Leowski C, Bonnemaison M, Le Paslier D, et al. 1996. Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat Genet 14:461-464.
40. Ramprasad VL, Soumittra N, Nancarrow D, Sen P, McKibbin M, Williams GA, Arokiasamy T, Lakshmipathy P, Inglehearn CF, Kumaramanickavel G. 2008. Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis. Mol Vis 14:481-486.
41. Sergouniotis PI, Davidson AE, Lenassi E, Devery SR, Moore AT, Webster AR. 2012. Retinal structure, function, and molecular pathologic features in gyrate atrophy. Ophthalmology 119:596-605.
42. Sergouniotis PI, Davidson AE, Mackay DS, Li Z, Yang X, Plagnol V, Moore AT, Webster AR. 2011. Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis. Am J Hum Genet 89:183-190.
43. Sohocki MM, Bowne SJ, Sullivan LS, Blackshaw S, Cepko CL, Payne AM, Bhattacharya SS, Khaliq S, Qasim Mehdi S, Birch DG, Harrison WR, Elder FF, et al. 2000. Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nat Genet 24:79-83.
44. Swaroop A, Wang QL, Wu W, Cook J, Coats C, Xu S, Chen S, Zack DJ, Sieving PA. 1999. Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function. Hum Mol Genet 8:299-305.
45. Thompson DA, Li Y, McHenry CL, Carlson TJ, Ding X, Sieving PA, Apfelstedt-Sylla E, Gal A. 2001. Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. Nat Genet 28:123-124.
46. Vallespin E, Avila-Fernandez A, Almoguera B, Cantalapiedra D, Garcia-Hoyos M, Riveiro-Alvarez R, Aguirre-Lamban J, Bustamante-Aragones A, Trujillo-Tiebas MJ, Ayuso C. 2010a. Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA). Hum Genet 127:118.
47. Vallespin E, Avila-Fernandez A, Almoguera B, Velez-Monsalve C, Cantalapiedra D, Garcia-Hoyos M, Riveiro-Alvarez R, Aguirre-Lamban J, Bustamante-Aragones A, Trujillo-Tiebas MJ, Ayuso C. 2010b. Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber congenital amaurosis. Hum Genet 127:487.
48. von Leber T. 1869. Ueber Refinitis pigmentosa und angeborene Amaurose. Archiv fur Ophthalmologie 15:1-25.
49. 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, et al. 2009. Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. Am J Hum Genet 84:380-387.
50. Weleber RG, Michaelides M, Trzupek KM, Stover NB, Stone EM. 2011. The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis. Invest Ophthalmol Vis Sci 52:292-302.
51. Zweifel SA, Engelbert M, Laud K, Margolis R, Spaide RF, Freund KB. 2009. Outer retinal tubulation: a novel optical coherence tomography finding. Arch Ophthalmol 127(12):1596-1602.