Genetics of primary inherited disorders of the optic nerve: Clinical applications

Cold Spring Harbor Perspectives in Medicine

Volumn 5, Issue 7, 2015, Pages

  Allen, Keri F ^a   Gaier, Eric D ^a   Wiggs, Janey L ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CILIARY NEUROTROPHIC FACTOR; COLLAGEN TYPE 15; COLLAGEN TYPE 18; COMPLEMENTARY RNA; CYCLIN DEPENDENT KINASE INHIBITOR 2B; CYTOCHROME P450 1B1; MITOCHONDRIAL DNA; TRANSCRIPTION FACTOR FOXC1; TRANSCRIPTION FACTOR PAX6; TRANSCRIPTION FACTOR PITX2;

ARTICLE; CONGENITAL GLAUCOMA; COPY NUMBER VARIATION; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; GLAUCOMA; HUMAN; KJER OPTIC ATROPHY; LEBER HEREDITARY OPTIC NEUROPATHY; NEPHROBLASTOMA; NONHUMAN; OPTIC NERVE DISEASE; POINT MUTATION; PRIMARY OPTIC NEUROPATHY; RISK ASSESSMENT; AUTOSOMAL DOMINANT OPTIC ATROPHY; GENETICS; MUTATION; PROCEDURES;

DNA, MITOCHONDRIAL; GENETIC TESTING; GLAUCOMA; HUMANS; MUTATION; OPTIC ATROPHY, AUTOSOMAL DOMINANT; OPTIC ATROPHY, HEREDITARY, LEBER; RISK ASSESSMENT;

EID: 84934777134     PISSN: None     EISSN: 21571422     Source Type: Journal    
DOI: 10.1101/cshperspect.a017277     Document Type: Article

References (58)

1. Reference is also in this subject collection.
2. Abu-Amero KK, Morales J, Aljasim LA, Edward DP. 2013. CYP1B1 mutations are a major contributor to juvenileonset open angle glaucoma in Saudi Arabia. Ophthalmic Genet doi: 10.3109/13816810.2013.841961.
3. Allingham RR, Wiggs JL, De La Paz MA, Vollrath D, Tallett DA, Broomer B, Jones KH, Del Bono EA, Kern J, Patterson K, et al. 1998. Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma. Invest Ophthalmol Vis Sci 39: 2288-2295.
4. Almind GJ, Grønskov K, Milea D, Larsen M, Brøndum-Nielsen K, Ek J. 2011. Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy. BMC Med Genet 12: 49.
5. Anholt RR, Carbone MA. 2013. A molecular mechanism for glaucoma: Endoplasmic reticulum stress and the unfolded protein response. Trends Mol Med 19: 586-593.
6. Bannwarth S, Procaccio V, Lebre AS, Jardel C, Chaussenot A, Hoarau C, Maoulida H, Charrier N, Gai X, Xie HM, et al. 2013. Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders. J Med Genet 50: 704-714.
7. Chanda B, Asai-Coakwell M, Ye M, Mungall AJ, Barrow M, Dobyns WB, Behesti H, Sowden JC, Carter NP, Walter MA, et al. 2008. A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation. Hum Mol Genet 17: 3446-3458.
8. Cwerman-Thibault H, Augustin S, Ellouze S, Sahel JA, Cor-ral-Debrinski M. 2014. Gene therapy for mitochondrial diseases: Leber hereditary optic neuropathy as the first candidate for a clinical trial. C R Biol 337: 193-206.
9. D’haene B, Meire F, Claerhout I, Kroes HY, Plomp A, Arens YH, de Ravel T, Casteels I, De Jaegere S, Hooghe S, et al. 2011. Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations. Invest Ophthalmol Vis Sci 52: 324-333.
10. Delahaye A, Bitoun P, Drunat S, Gérard-Blanluet M, Chas-saing N, Toutain A, Verloes A, Gatelais F, Legendre M, Faivre L, et al. 2012. Genomic imbalances detected by array-CGH in patients with syndromal ocular develop-mental anomalies. Eur J Hum Genet 20: 527-533.
11. Fan BJ, Wiggs JL. 2010. Glaucoma: Genes, phenotypes, and new directions for therapy. J Clin Invest 120: 3064-3072.
12. Fan BJ, Pasquale LR, Rhee D, Li T, Haines JL, Wiggs JL. 2011. LOXL1 promoter haplotypes are associated with exfolia-tion syndrome in a U.S. Caucasian population. Invest Ophthalmol Vis Sci 52: 2372-2378.
13. Farrar GJ, Chadderton N, Kenna PF, Millington-Ward S. 2013. Mitochondrial disorders: Aetiologies, models systems, and candidate therapies. Trends Genet 29: 488-497.
14. Ferré M, Bonneau D, Milea D, Chevrollier A, Verny C, Dollfus H, Ayuso C, Defoort S, Vignal C, Zanlonghi X, et al. 2009. Molecular screening of 980 cases of suspected he-reditary optic neuropathy with a report on 77 novel OPA1 mutations. Hum Mutat 30: E692-E705.
15. Fuhrmann N, Alavi MV, Bitoun P, Woernle S, Auburger G, Leo-Kottler B, Yu-Wai-Man P, Chinnery P, Wissinger B. 2009. Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy. J Med Genet 46: 136-144.
16. Fung DS, Roensch MA, Kooner KS, Cavanagh HD, Whitson JT. 2013. Epidemiology and characteristics of childhood glaucoma: Results from the Dallas Glaucoma Registry. Clin Ophthalmol 7: 1739-1746.
17. Gripp KW, Hopkins E, Jenny K, Thacker D, Salvin J. 2013. Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation. Am J Med Genet A 161A: 114-119.
18. Hauser MA, Sena DF, Flor J, Walter J, Auguste J, Larocque-Abramson K, Graham F, Delbono E, Haines JL, Pericak-Vance MA, et al. 2006. Distribution of optineurin se-quence variations in an ethnically diverse population of low-tension glaucoma patients from the United States. J Glaucoma 15: 358-363.
19. Hingorani M, Hanson I, van Heyningen V. 2012. Aniridia. Eur J Hum Genet 20: 1011-1017.
20. Hogewind BF, Mukhopadhyay A, Theelen T, Hollander AI, Hoyng CB. 2010. Variable clinical spectrum of the myocilin Gln368X mutation in a Dutch family with primary open angle glaucoma. Curr Eye Res 35: 31-36.
21. Hollander DA, Sarfarazi M, Stoilov I, Wood IS, Fredrick DR, Alvarado JA. 2006. Genotype and phenotype correlations in congenital glaucoma: CYP1B1 mutations, goniodys-genesis, and clinical characteristics. Am J Ophthalmol 142: 993-1004.
22. Howell N, Herrnstadt C, Shults C, Mackey DA. 2003. Low penetrance of the 14484 LHON mutation when it arises in a non-haplogroup J mtDNA background. Am J Med Genet A 119A: 147-151.
23. Huang X, Li M, Guo X, Li S, Xiao X, Jia X, Liu X, Zhang Q. 2014. Mutation analysis of seven known glaucoma-associated genes in Chinese patients with glaucoma. Invest Ophthalmol Vis Sci 55: 3594-3602.
24. Jeoung JW, Seong MW, Park SS, Kim DM, Kim SH, Park KH. 2014. Mitochondrial DNA variant discovery in normal-tension glaucoma patients by next-generation se-quencing. Invest Ophthalmol Vis Sci 55: 986-992.
25. Johnson TV, Martin KR. 2013. Cell transplantation approaches to retinal ganglion cell neuroprotection in glau-coma. Curr Opin Pharmacol 13: 78-82.
26. Johnson TV, Bull ND, Martin KR. 2011. Neurotrophic factor delivery as a protective treatment for glaucoma. Exp Eye Res 93: 196-203.
27. Kirkman MA, Yu-Wai-Man P, Korsten A, Leonhardt M, Dimitriadis K, De Coo IF, Klopstock T, Chinnery PF. 2009. Gene-environment interactions in Leber hereditary optic neuropathy. Brain 132: 2317-2326.
28. Koilkonda RD, Yu H, Chou TH, Feuer WJ, Ruggeri M, Por-ciatti V, Tse D, Hauswirth WW, Chiodo V, Boye SL, et al. 2014. Safety and effects of the vector for the Leber hered-itary optic neuropathy gene therapy clinical trial. JAMA Ophthalmol 132: 409-420.
29. Kooner K, Harrison M, Prasla Z, Albdour M, Adams-Huet B. 2014. Pediatric glaucoma suspects. Clin Ophthalmol 8: 1139-1145.
30. Lam BL, Feuer WJ, Schiffman JC, Porciatti V, Vanden-broucke R, Rosa PR, Gregori G, Guy J. 2014. Trial end points and natural history in patients with G11778A Leber hereditary optic neuropathy: Preparation for gene therapy clinical trial. JAMA Ophthalmol 132: 428-436.
31. Lim SH, Tran-Viet KN, Yanovitch TL, Freedman SF, Klemm T, Call W, Powell C, Ravichandran A, Metlapally R, Nad-ing EB, et al. 2013. CYP1B1, MYOC, and LTBP2 muta-tions in primary congenital glaucoma patients in the United States. Am J Ophthalmol 155: 508-517.e5.
32. Liu Y, Vollrath D. 2004. Reversal of mutant myocilin nonsecretion and cell killing: Implications for glaucoma. Hum Mol Genet 13: 1193-1204.
33. López-Garrido MP, Medina-Trillo C, Morales-Fernandez L, Garcia-Feijoo J, Martínez-de-la-Casa JM, García-Antón M, Escribano J. 2013. Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma. Oph-thalmology 120: 716-723.
34. Mackey DA, Oostra RJ, Rosenberg T, Nikoskelainen E, Bron-te-Stewart J, Poulton J, Harding AE, Govan G, Bolhuis PA, Norby S. 1996. Primary pathogenic mtDNA muta-tions in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet 59: 481-485.
35. McBride DJ, Buckle A, van Heyningen V, Kleinjan DA. 2011. DNaseI hypersensitivity and ultraconservation reveal novel, interdependent long-range enhancers at the com-plex Pax6 cis-regulatory region. PLoS ONE 6: e28616.
36. Millá E, Mañé B, Duch S, Hernan I, Borràs E, Planas E, Dias Mde S, Carballo M, Gamundi MJ, Spanish Multicenter Glaucoma Group-Estudio Multicéntrico Español de Investigación Genética del Glaucoma, EMEIGG. 2013. Survey of familial glaucoma shows a high inci-dence of cytochrome P450, family 1, subfamily B, poly-peptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population. Mol Vis 19: 1707-1722.
37. Neuhann T, Rautenstrauss B. 2013. Genetic and phenotypic variability of optic neuropathies. Expert Rev Neurother 13: 357-367.
38. Pease ME, Zack DJ, Berlinicke C, Bloom K, Cone F, Wang Y, Klein RL, Hauswirth WW, Quigley HA. 2009. Effect of CNTF on retinal ganglion cell survival in experimental glaucoma. Invest Ophthalmol Vis Sci 50: 2194-2200.
39. Redeker EJ, de Visser AS, Bergen AA, Mannens MM. 2008. Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders. Mol Vis 14: 836-840.
40. Ritch R, Darbro B, Menon G, Khanna CL, Solivan-Timpe F, Roos BR, Sarfarzi M, Kawase K, Yamamoto T, Robin AL, et al. 2014. TBK1 gene duplication and normal-tension glaucoma. JAMA Ophthalmol 132: 544-548.
41. Sadun AA, Carelli V, Salomao SR, Berezovsky A, Quiros PA, Sadun F, DeNegri AM, Andrade R, Moraes M, Passos A, et al. 2003. Extensive investigation of a large Brazilian ped-igree of 11778/haplogroup J Leber hereditary optic neu-ropathy. Am J Ophthalmol 136: 231-238.
42. Sadun F, De Negri AM, Carelli V, Salomao SR, Berezovsky A, Andrade R, Moraes M, Passos A, Belfort R, da Rosa AB, et al. 2004. Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy. Am J Ophthalmol 137: 271-277.
43. Sena DF, Finzi S, Rodgers K, Del Bono E, Haines JL, Wiggs JL. 2004. Founder mutations of CYP1B1 gene in patients with congenital glaucoma from the United States and Brazil. J Med Genet 41: e6.
44. Shankar SP, Fingert JH, Carelli V, Valentino ML, King TM, Daiger SP, Salomao SR, Berezovsky A, Belfort R Jr, Braun TA, et al. 2008. Evidence for a novel X-linked modifier locus for Leber hereditary optic neuropathy. Ophthalmic Genet 29: 17-24.
45. Souzeau E, Burdon KP, Dubowsky A, Grist S, Usher B, Fitz-gerald JT, Crawford A, Hewitt AW, Goldberg I, Mills RA, et al. 2013. Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an Australasian disease registry. Ophthalmology 120: 1135-1143.
46. Stone EM, Aldave AJ, Drack AV, Maccumber MW, Sheffield VC, Traboulsi E, Weleber RG. 2012. Recommendations for genetic testing of inherited eye diseases: Report of the American Academy of Ophthalmology task force on ge-netic testing. Ophthalmology 119: 2408-2410.
47. Suri F, Yazdani S, Narooie-Nejhad M, Zargar SJ, Paylakhi SH, Zeinali S, Pakravan M, Elahi E. 2009. Variable expres-sivity and high penetrance of CYP1B1 mutations associ-ated with primary congenital glaucoma. Ophthalmology 116: 2101-2109.
48. Volkmann BA, Zinkevich NS, Mustonen A, Schilter KF, Bo-senko DV, Reis LM, Broeckel U, Link BA, Semina EV. 2011. Potential novel mechanism for Axenfeld-Rieger syndrome: Deletion of a distant region containing regu-latory elements of PITX2. Invest Ophthalmol Vis Sci 52: 1450-1459.
49. Wallace DC, Chalkia D. 2013. Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease. Cold Spring Harb Perspect Med 3: a021220.
50. Wang R, Wiggs JL. 2014. Common and rare genetic risk factors for glaucoma. Cold Spring Harb Perspect Biol 4: a017244.
51. Wang WH, McNatt LG, Shepard AR, Jacobson N, Nishi-mura DY, Stone EM, Sheffield VC, Clark AF. 2001. Optimal procedure for extracting RNA from human ocular tissues and expression profiling of the congenital glauco-ma gene FOXC1 using quantitative RT-PCR. Mol Vis 7: 89-94.
52. Wang J, Xin YF, Xu WJ, Liu ZM, Qiu XB, Qu XK, Xu L, Li X, Yang YQ. 2013. Prevalence and spectrum of PITX2c mutations associated with congenital heart disease. DNACell Biol 32: 708-716.
53. Wiggs JL, Yaspan BL, Hauser MA, Kang JH, Allingham RR, Olson LM, Abdrabou W, Fan BJ, Wang DY, Brodeur W, et al. 2012. Common variants at 9p21 and 8q22 are associ-ated with increased susceptibility to optic nerve degen-eration in glaucoma. PLoS Genet 8: e1002654.
54. Wiggs JL, Howell GR, Linkroum K, Abdrabou W, Hodges E, Braine CE, Pasquale LR, Hannon GJ, Haines JL, John SW. 2013. Variations in COL15A1 and COL18A1 influence age of onset of primary open angle glaucoma. Clin Genet 84: 167-174.
55. Wiggs JL, Langguth AM, Allen KF. 2014. Carrier Frequency of CYP1B1 Mutations in the United States. Trans Am Ophthalmol Soc (in press).
56. Yu-Wai-Man P, Shankar SP, Biousse V, Miller NR, Bean LJ, Coffee B, Hegde M, Newman NJ. 2011. Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies. Ophthalmology 118: 558-563.
57. Zode GS, Kuehn MH, Nishimura DY, Searby CC, Mohan K, Grozdanic SD, Bugge K, Anderson MG, Clark AF, Stone EM, et al. 2011. Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse mod-el of primary open angle glaucoma. J Clin Invest 121: 3542-3553.
58. Zode GS, Bugge KE, Mohan K, Grozdanic SD, Peters JC, Koehn DR, Anderson MG, Kardon RH, Stone EM, Sheffield VC. 2012. Topical ocular sodium 4-phenylbutyrate rescues glaucoma in a myocilin mouse model of primary open-angle glaucoma. Invest Ophthalmol Vis Sci 53: 1557-1565.