Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.
Alleles
Antigens, Neoplasm
/ genetics
Brazil
/ epidemiology
Cell Cycle Proteins
/ genetics
Cytoskeletal Proteins
/ genetics
Eye Diseases, Hereditary
/ diagnosis
Eye Proteins
/ genetics
Female
Genetic Association Studies
Genotype
Humans
Leber Congenital Amaurosis
/ diagnosis
Male
Membrane Proteins
/ genetics
Mutation
/ genetics
Nerve Tissue Proteins
/ genetics
Pedigree
Phenotype
Retinal Dystrophies
/ diagnosis
Leber congenital amaurosis (LCA)
causal genes
childhood blindness
early-onset retinal dystrophy (EORD)
genotype-phenotype
pathogenic variants
Journal
American journal of medical genetics. Part C, Seminars in medical genetics
ISSN: 1552-4876
Titre abrégé: Am J Med Genet C Semin Med Genet
Pays: United States
ID NLM: 101235745
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
25
05
2020
revised:
25
07
2020
accepted:
28
07
2020
pubmed:
1
9
2020
medline:
3
6
2021
entrez:
1
9
2020
Statut:
ppublish
Résumé
Leber congenital amaurosis (LCA) and early-onset retinal dystrophy (EORD) are severe inherited retinal dystrophy that can cause deep blindness childhood. They represent 5% of all retinal dystrophies in the world population and about 10% in Brazil. Clinical findings and molecular basis of syndromic and nonsyndromic LCA/EORD in a Brazilian sample (152 patients/137 families) were studied. In this population, 15 genes were found to be related to the phenotype, 38 new variants were detected and four new complex alleles were discovered. Among 123 variants found, the most common were CEP290: c.2991+1655A>G, CRB1: p.Cys948Tyr, and RPGRIP1: exon10-18 deletion.
Identifiants
pubmed: 32865313
doi: 10.1002/ajmg.c.31828
doi:
Substances chimiques
Antigens, Neoplasm
0
CRB1 protein, human
0
Cell Cycle Proteins
0
Cep290 protein, human
0
Cytoskeletal Proteins
0
Eye Proteins
0
Membrane Proteins
0
Nerve Tissue Proteins
0
RPGRIP1 protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
728-752Informations de copyright
© 2020 Wiley Periodicals LLC.
Références
Abu-Safieh, L., Alrashed, M., Anazi, S., Alkuraya, H., Khan, A. O., Al-Owain, M., … Alkuraya, F. S. (2013). Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Research, 23(2), 236-247. https://doi.org/10.1101/gr.144105.112
Aleman, T. S., Uyhazi, K. E., Serrano, L. W., Vasireddy, V., Bowman, S. J., Ammar, M. J., … Bennett, J. (2018). RDH12 mutations cause a severe retinal degeneration with relatively spared rod function. Investigative Ophthalmology & Visual Science, 59(12), 5225-5236. https://doi.org/10.1167/iovs.18-24708
Alström, C. H., & Olson, O. (1957). Heredo-retinopathia Congenitalis: Monohybrida Recessiva Autosomalis, Lund, Sweden: Berlingska Boktryckeriet Retrieved from https://books.google.com.br/books?id=tFOuAAAAIAAJ
Ávila-Fernández, A., Cantalapiedra, D., Aller, E., Vallespín, E., Aguirre-Lambán, J., Blanco-Kelly, F., … Ayuso, C. (2010). Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. Molecular Vision, 16, 2550-2558 Retrieved from http://www.molvis.org/molvis/v16/a272
Bachmann-Gagescu, R., Dempsey, J. C., Phelps, I. G., O'Roak, B. J., Knutzen, D. M., Rue, T. C., … Doherty, D. (2015). Joubert syndrome: A model for untangling recessive disorders with extreme genetic heterogeneity. Journal of Medical Genetics, 52(8), 514-522. https://doi.org/10.1136/jmedgenet-2015-103087
Barbelanne, M., Song, J., Ahmadzai, M., & Tsang, W. Y. (2013). Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis. Human Molecular Genetics, 22(12), 2482-2494. https://doi.org/10.1093/hmg/ddt100
Benayoun, L., Spiegel, R., Auslender, N., Abbasi, A. H., Rizel, L., Hujeirat, Y., … Ben-Yosef, T. (2009). Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: The pitfalls of homozygosity mapping. American Journal of Medical Genetics. Part A, 149A(4), 650-656. https://doi.org/10.1002/ajmg.a.32634
Ben-Salem, S., Al-Shamsi, A. M., Gleeson, J. G., Ali, B. R., & Al-Gazali, L. (2014). Mutation spectrum of Joubert syndrome and related disorders among Arabs. Human Genome Variation, 1, 1-10. https://doi.org/10.1038/hgv.2014.20
Brancati, F., Dallapiccola, B., & Valente, E. M. (2010). Joubert syndrome and related disorders. Orphanet Journal of Rare Diseases, 5(1), 20. https://doi.org/10.1186/1750-1172-5-20
Bravo-Gil, N., González-Del Pozo, M., Martín-Sánchez, M., Méndez-Vidal, C., Rodríguez-De La Rúa, E., Borrego, S., & Antiñolo, G. (2017). Unravelling the genetic basis of simplex retinitis pigmentosa cases. Scientific Reports, 7, 1-10. https://doi.org/10.1038/srep41937
Bravo-Gil, N., Méndez-Vidal, C., Romero-Pérez, L., González-Del Pozo, M., Rodríguez-De La Ruá, E., Dopazo, J., … Antinõlo, G. (2016). Improving the management of inherited retinal dystrophies by targeted sequencing of a population-specific gene panel. Scientific Reports, 6, 1-10. https://doi.org/10.1038/srep23910
Bujakowska, K., Audo, I., Mohand-Säid, S., Lancelot, M. E., Antonio, A., Germain, A., … Zeitz, C. (2012). CRB1 mutations in inherited retinal dystrophies. Human Mutation, 33(2), 306-315. https://doi.org/10.1002/humu.21653
Carss, K., Arno, G., Erwood, M., Stephens, J., Sanchis-Juan, A., Hull, S., … Yu, P. (2017). Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease. American Journal of Human Genetics, 100(1), 75-90. https://doi.org/10.1016/j.ajhg.2016.12.003
Ceyhan-Birsoy, O., Murry, J. B., Machini, K., Lebo, M. S., Yu, T. W., Fayer, S., … Yu, T. W. (2019). Interpretation of genomic sequencing results in healthy and ill newborns: Results from the BabySeq project. American Journal of Human Genetics, 104(1), 76-93. https://doi.org/10.1016/j.ajhg.2018.11.016
Chacon-Camacho, O. F., & Zenteno, J. C. (2015). Review and update on the molecular basis of Leber congenital amaurosis. World Journal of Clinical Cases, 3(2), 112-124. https://doi.org/10.12998/wjcc.v3.i2.112
Chaki, M., Hoefele, J., Allen, S. J., Ramaswami, G., Janssen, S., Bergmann, C., … Hildebrandt, F. (2011). Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. Kidney International, 80(11), 1239-1245. https://doi.org/10.1038/ki.2011.284
Chiang, P.-W., Wang, J., Chen, Y., Fu, Q., Zhong, J., Chen, Y., … Qi, M. (2012). Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. Nature Genetics, 44(9), 972-974. https://doi.org/10.1038/ng.2370
Chung, D. C., Bertelsen, M., Lorenz, B., Pennesi, M. E., Leroy, B. P., Hamel, C. P., … Reape, K. Z. (2019). The natural history of inherited retinal dystrophy due to Biallelic mutations in the RPE65 gene. American Journal of Ophthalmology, 199, 58-70. https://doi.org/10.1016/j.ajo.2018.09.024
Chung, D. C., & Traboulsi, E. I. (2009). Leber congenital amaurosis: Clinical correlations with genotypes, gene therapy trials update, and future directions. Journal of American Association for Pediatric Ophthalmology and Strabismus, 13(6), 587-592. https://doi.org/10.1016/j.jaapos.2009.10.004
Consugar, M. B., Navarro-Gomez, D., Place, E. M., Bujakowska, K. M., Sousa, M. E., Fonseca-Kelly, Z. D., … Pierce, E. A. (2015). Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. Genetics in Medicine, 17(4), 253-261. https://doi.org/10.1038/gim.2014.172
Coppieters, F., Casteels, I., Meire, F., De Jaegere, S., Hooghe, S., van Regemorter, N., … De Baere, E. (2010a). Genetic screening of LCA in Belgium: Predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. Human Mutation, 31(10), E1709-E1766. https://doi.org/10.1002/humu.21336
Coppieters, F., Lefever, S., Leroy, B. P., & De Baere, E. (2010b). CEP290, a gene with many faces: Mutation overview and presentation of CEP290base. Human Mutation, 31(10), 1097-1108. https://doi.org/10.1002/humu.21337
Corton, M., Tatu, S. D., Avila-Fernandez, A., Vallespín, E., Tapias, I., Cantalapiedra, D., … Ayuso, C. (2013). High frequency of CRB1 mutations as cause of early-onset retinal dystrophies in the Spanish population. Orphanet Journal of Rare Diseases, 8, 20. https://doi.org/10.1186/1750-1172-8-20
Coussa, R. G., Lopez Solache, I., & Koenekoop, R. K. (2017). Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee. Ophthalmic Genetics, 38(1), 7-15. https://doi.org/10.1080/13816810.2016.1275021
Coutelier, M., Hammer, M. B., Stevanin, G., Monin, M.-L., Davoine, C.-S., Mochel, F., … Network, A. (2018). Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes. JAMA Neurology, 75(5), 591-599. https://doi.org/10.1001/jamaneurol.2017.5121
Daiger, S., Rossiter, B., Greenberg, J., Christoffels, A., & Hide, W. (1998). Data services and software for identifying genes and mutations causing retinal degeneration. Investigative Ophthalmology and Visual Science, 39, S295 Retrieved from https://sph.uth.edu/retnet/
den Hollander, A. I., Koenekoop, R. K., Mohamed, M. D., Arts, H. H., Boldt, K., Towns, K. V., … Roepman, R. (2007). Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nature Genetics, 39(7), 889-895. https://doi.org/10.1038/ng2066
den Hollander, A. I., Koenekoop, R. K., Yzer, S., Lopez, I., Arends, M. L., Voesenek, K. E. J., … Cremers, F. P. M. (2006). Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. American Journal of Human Genetics, 79(3), 556-561. https://doi.org/10.1086/507318
den Hollander, A. I., Roepman, R., Koenekoop, R. K., & Cremers, F. P. M. (2008). Leber congenital amaurosis: Genes, proteins and disease mechanisms. Progress in Retinal and Eye Research, 27(4), 391-419. https://doi.org/10.1016/j.preteyeres.2008.05.003
Dixon-Salazar, T., Silhavy, J. L., Marsh, S. E., Louie, C. M., Scott, L. C., Gururaj, A., … Gleeson, J. G. (2004). Mutations in the AHI1 gene, encoding Jouberin, cause Joubert syndrome with cortical polymicrogyria. The American Journal of Human Genetics, 75(6), 979-987. https://doi.org/10.1086/425985
Dryja, T. P., Adams, S. M., Grimsby, J. L., McGee, T. L., Hong, D. H., Li, T., … Berson, E. L. (2001). Null RPGRIP1 alleles in patients with Leber congenital amaurosis. American Journal of Human Genetics, 68(5), 1295-1298. https://doi.org/10.1086/320113
Eblimit, A., Nguyen, T.-M. T., Chen, Y., Esteve-Rudd, J., Zhong, H., Letteboer, S., … Chen, R. (2015). Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. Human Molecular Genetics, 24(6), 1584-1601. https://doi.org/10.1093/hmg/ddu573
Eisenberger, T., Neuhaus, C., Khan, A. O., Decker, C., Preising, M. N., Friedburg, C., … Bolz, H. J. (2013). Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: The example of retinal dystrophies. PLoS One, 8(11), 1-18. https://doi.org/10.1371/journal.pone.0078496
Estrada-Cuzcano, A., Koenekoop, R. K., Coppieters, F., Kohl, S., Lopez, I., Collin, R. W. J., … den Hollander, A. I. (2011). IQCB1 mutations in patients with Leber congenital amaurosis. Investigative Opthalmology & Visual Science, 52(2), 834-839. https://doi.org/10.1167/iovs.10-5221
Ferland, R. J., Eyaid, W., Collura, R. V., Tully, L. D., Hill, R. S., Al-Nouri, D., … Walsh, C. A. (2004). Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nature Genetics, 36(9), 1008-1013. https://doi.org/10.1038/ng1419
Fingert, J. H., Oh, K., Chung, M., Scheetz, T. E., Andorf, J. L., Johnson, R. M., … Stone, E. M. (2008). Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa. Archives of Ophthalmology (Chicago, Ill.: 1960), 126(9), 1301-1307. https://doi.org/10.1001/archopht.126.9.1301
Foxman, S. G., Heckenlively, J. R., Bateman, J. B., & Wirtschafter, J. D. (1985). Classification of congenital and early onset retinitis pigmentosa. Archives of Ophthalmology, 103(10), 1502-1506. https://doi.org/10.1001/archopht.1985.01050100078023
Francis, P. J. (2006). Genetics of inherited retinal disease. Journal of the Royal Society of Medicine, 99(4), 189-191. https://doi.org/10.1258/jrsm.99.4.189
French, V. M., van de Laar, I. M. B. H., Wessels, M. W., Rohe, C., Roos-Hesselink, J. W., Wang, G., … Bertoli-Avella, A. M. (2012). NPHP4 variants are associated with pleiotropic heart malformations. Circulation Research, 110(12), 1564-1574. https://doi.org/10.1161/CIRCRESAHA.112.269795
Gast, C., Pengelly, R. J., Lyon, M., Bunyan, D. J., Seaby, E. G., Graham, N., … Ennis, S. (2016). Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis. Nephrology, Dialysis, Transplantation, 31(6), 961-970. https://doi.org/10.1093/ndt/gfv325
González-Del Pozo, M., Martín-Sánchez, M., Bravo-Gil, N., Méndez-Vidal, C., Chimenea, Á., Rodríguez-de la Rúa, E., … Antiñolo, G. (2018). Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing. Scientific Reports, 8(1), 13312. https://doi.org/10.1038/s41598-018-31511-5
Helou, J., Otto, E. A., Attanasio, M., Allen, S. J., Parisi, M. A., Glass, I., … Hildebrandt, F. (2007). Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome. Journal of Medical Genetics, 44(10), 657-663. https://doi.org/10.1136/jmg.2007.052027
Henderson, R. H., Mackay, D. S., Li, Z., Moradi, P., Sergouniotis, P., Russell-Eggitt, I., … Moore, A. T. (2011). Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1. The British Journal of Ophthalmology, 95, 811-817. https://doi.org/10.1136/bjo.2010.186882
Hildebrandt, F., Attanasio, M., & Otto, E. (2009). Nephronophthisis: Disease mechanisms of a ciliopathy. Journal of the American Society of Nephrology, 20(1), 23-35. https://doi.org/10.1681/ASN.2008050456
Hoefele, J., Sudbrak, R., Reinhardt, R., Lehrack, S., Hennig, S., Imm, A., … Hildebrandt, F. (2005). Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis. Human Mutation, 25(4), 411. https://doi.org/10.1002/humu.9326
Huang, H., Chen, Y., Chen, H., Ma, Y., Chiang, P.-W., Zhong, J., … Yi, X. (2018). Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa. PLoS One, 13(4), e0185237. https://doi.org/10.1371/journal.pone.0185237
Hull, S., Arno, G., Plagnol, V., Chamney, S., Russell-Eggitt, I., Thompson, D., … Webster, A. R. (2014). The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype. Investigative Ophthalmology & Visual Science, 55(10), 6934-6944. https://doi.org/10.1167/iovs.14-14715
Itoh, M., Ide, S., Iwasaki, Y., Saito, T., Narita, K., Dai, H., … Arima, M. (2018). Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases. Brain & Development, 40(4), 259-267. https://doi.org/10.1016/j.braindev.2017.11.002
Jacobson, S. G., Cideciyan, A. V., Aleman, T. S., Pianta, M. J., Sumaroka, A., Schwartz, S. B., … Stone, E. M. (2003). Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Human Molecular Genetics, 12(9), 1073-1078. https://doi.org/10.1093/hmg/ddg117
Janecke, A. R., Thompson, D. A., Utermann, G., Becker, C., Hübner, C. A., Schmid, E., … Gal, A. (2004). Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Nature Genetics, 36(8), 850-854. https://doi.org/10.1038/ng1394
Kelsell, R. E., Gregory-Evans, K., Payne, A. M., Perrault, I., Kaplan, J., Yang, R.-B., … Hunt, D. M. (1998). Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. Human Molecular Genetics, 7(7), 1179-1184. https://doi.org/10.1093/hmg/7.7.1179
Khan, A. O., Aldahmesh, M. A., Abu-Safieh, L., & Alkuraya, F. S. (2014). Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation. Ophthalmic Genetics, 35(3), 1-8. https://doi.org/10.3109/13816810.2013.804097
Kirschman, L. T., Kolandaivelu, S., Frederick, J. M., Dang, L., Goldberg, A. F. X., Baehr, W., & Ramamurthy, V. (2010). The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells. Human Molecular Genetics, 19(6), 1076-1087. https://doi.org/10.1093/hmg/ddp571
Knopp, C., Rudnik-Schöneborn, S., Eggermann, T., Bergmann, C., Begemann, M., Schoner, K., … Ortiz Brüchle, N. (2015). Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing. Molecular and Cellular Probes, 29(5), 299-307. https://doi.org/10.1016/j.mcp.2015.05.008
Koenekoop, R. K. (2004). An overview of Leber congenital amaurosis: A model to understand human retinal development. Survey of Ophthalmology, 49(4), 379-398. https://doi.org/10.1016/j.survophthal.2004.04.003
Koenekoop, R. K. (2005). RPGRIP1 is mutated in Leber congenital amaurosis: A mini-review. Ophthalmic Genetics, 26(4), 175-179. https://doi.org/10.1080/13816810500374441
Kumaran, N., Moore, A. T., Weleber, R. G., & Michaelides, M. (2017). Leber congenital amaurosis/early-onset severe retinal dystrophy: Clinical features, molecular genetics and therapeutic interventions. British Journal of Ophthalmology, 101(9), 1147-1154. https://doi.org/10.1136/bjophthalmol-2016-309975
Kumaran, N., Ripamonti, C., Kalitzeos, A., Rubin, G. S., Bainbridge, J. W. B., & Michaelides, M. (2018). Severe loss of tritan color discrimination in RPE65 associated Leber congenital amaurosis. Investigative Ophthalmology & Visual Science, 59(1), 85-93. https://doi.org/10.1167/iovs.17-22905
Lancaster, M. A., Gopal, D. J., Kim, J., Saleem, S. N., Silhavy, J. L., Louie, C. M., … Gleeson, J. G. (2011). Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. Nature Medicine, 17(6), 726-731. https://doi.org/10.1038/nm.2380
Landrum, M. J., Lee, J. M., Benson, M., Brown, G. R., Chao, C., Chitipiralla, S., … Maglott, D. R. (2018). ClinVar: Improving access to variant interpretations and supporting evidence. Nucleic Acids Research, 46(D1), D1062-D1067. https://doi.org/10.1093/nar/gkx1153
Lee, Y. L., Santé, J., Comerci, C. J., Cyge, B., Menezes, L. F., Li, F.-Q., … Stearns, T. (2014). Cby1 promotes Ahi1 recruitment to a ring-shaped domain at the centriole-cilium interface and facilitates proper cilium formation and function. Molecular Biology of the Cell, 25(19), 2919-2933. https://doi.org/10.1091/mbc.e14-02-0735
Li, S., Izumi, T., Hu, J., Jin, H. H., Siddiqui, A.-A. A., Jacobson, S. G., … Jin, M. (2014). Rescue of enzymatic function for disease-associated RPE65 proteins containing various missense mutations in non-active sites. The Journal of Biological Chemistry, 289(27), 18943-18956. https://doi.org/10.1074/jbc.M114.552117
Lotery, A. J., Namperumalsamy, P., Jacobson, S. G., Weleber, R. G., Fishman, G. A., Musarella, M. A., … Stone, E. M. (2000). Mutation analysis of 3 genes in patients with Leber congenital amaurosis. Archives of Ophthalmology, 118(4), 538. https://doi.org/10.1001/archopht.118.4.538
Moiseyev, G., Chen, Y., Takahashi, Y., Wu, B. X., & Ma, J.-X. (2005). RPE65 is the isomerohydrolase in the retinoid visual cycle. Proceedings of the National Academy of Sciences of the United States of America, 102(35), 12413-12418. https://doi.org/10.1073/pnas.0503460102
Mollet, G., Silbermann, F., Delous, M., Salomon, R., Antignac, C., & Saunier, S. (2005). Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes. Human Molecular Genetics, 14(5), 645-656. https://doi.org/10.1093/hmg/ddi061
Morimura, H., Fishman, G. A., Grover, S. A., Fulton, A. B., Berson, E. L., & Dryja, T. P. (1998). Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis. Proceedings of the National Academy of Sciences, 95(6), 3088-3093. https://doi.org/10.1073/pnas.95.6.3088
Motta, F. L., Martin, R. P., Filippelli-Silva, R., Salles, M. V., & Sallum, J. M. F. (2018). Relative frequency of inherited retinal dystrophies in Brazil. Scientific Reports, 8(1), 15939. https://doi.org/10.1038/s41598-018-34380-0
Motta, F. L., Martin, R. P., Porto, F. B., Wohler, E., Resende, R. G., Gomes, C. P., … Sallum, J. M. F. (2019). Pathogenicity reclassification of RPE65 missense variants related to Leber congenital amaurosis and early-onset retinal dystrophy. Genes, 11(1), 24. https://doi.org/10.3390/genes11010024
Motta, F. L., Salles, M. V., Costa, K. A., Filippelli-Silva, R., Martin, R. P., & Sallum, J. M. F. (2017). The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes. Scientific Reports, 7(1), 8654. https://doi.org/10.1038/s41598-017-09035-1
Nguyen, T.-M. T., Hull, S., Roepman, R., van den Born, L. I., Oud, M. M., de Vrieze, E., … Haer-Wigman, L. (2017). Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa. Journal of Medical Genetics, 54(9), 624-632. https://doi.org/10.1136/jmedgenet-2016-104200
Otto, E. A., Loeys, B., Khanna, H., Hellemans, J., Sudbrak, R., Fan, S., … Hildebrandt, F. (2005). Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nature Genetics, 37(3), 282-288. https://doi.org/10.1038/ng1520
Otto, E. A., Ramaswami, G., Janssen, S., Chaki, M., Allen, S. J., Zhou, W., … GPN Study Group. (2011). Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. Journal of Medical Genetics, 48(2), 105-116. https://doi.org/10.1136/jmg.2010.082552
Parisi, M. A. (2005). AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. Journal of Medical Genetics, 43(4), 334-339. https://doi.org/10.1136/jmg.2005.036608
Perrault, I., Delphin, N., Hanein, S., Gerber, S., Dufier, J.-L., Roche, O., … Rozet, J.-M. (2007). Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Human Mutation, 28(4), 416. https://doi.org/10.1002/humu.9485
Perrault, I., Hanein, S., Zanlonghi, X., Serre, V., Nicouleau, M., Defoort-Delhemmes, S., … Rozet, J.-M. (2012). Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. Nature Genetics, 44(9), 975-977. https://doi.org/10.1038/ng.2357
Perrault, I., Rozet, J. M., Calvas, P., Gerber, S., Camuzat, A., Dollfus, H., … Kaplan, J. (1996). Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nature Genetics, 14(4), 461-464. https://doi.org/10.1038/ng1296-461
Perrault, I., Rozet, J. M., Gerber, S., Ghazi, I., Ducroq, D., Souied, E., … Kaplan, J. (2000). Spectrum of retGC1 mutations in Leber's congenital amaurosis. European Journal of Human Genetics, 8(8), 578-582. https://doi.org/10.1038/sj.ejhg.5200503
Philp, A. R., Jin, M., Li, S., Schindler, E. I., Iannaccone, A., Lam, B. L., … Stone, E. M. (2009). Predicting the pathogenicity of RPE65 mutations. Human Mutation, 30(8), 1183-1188. https://doi.org/10.1002/humu.21033
Pocha, S. M., & Knust, E. (2013). Complexities of Crumbs function and regulation in tissue morphogenesis. Current Biology, 23(7), R289-R293. https://doi.org/10.1016/j.cub.2013.03.001
Porto, F., Jones, E., Branch, J., Soens, Z., Maia, I., Sena, I., … Chen, R. (2017). Molecular screening of 43 Brazilian families diagnosed with Leber congenital amaurosis or early-onset severe retinal dystrophy. Genes, 8(12), 355. https://doi.org/10.3390/genes8120355
Quang, D., Chen, Y., & Xie, X. (2015). DANN: A deep learning approach for annotating the pathogenicity of genetic variants. Bioinformatics (Oxford, England), 31(5), 761-763. https://doi.org/10.1093/bioinformatics/btu703
Ramamurthy, V., Niemi, G. A., Reh, T. A., & Hurley, J. B. (2004). Leber congenital amaurosis linked to AIPL1: A mouse model reveals destabilization of cGMP phosphodiesterase. Proceedings of the National Academy of Sciences of the United States of America, 101(38), 13897-13902. https://doi.org/10.1073/pnas.0404197101
Ramprasad, V. L., Soumittra, N., Nancarrow, D., Sen, P., McKibbin, M., Williams, G. A., … Kumaramanickavel, G. (2008). Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis. Molecular Vision, 14, 481-486 Retrieved from http://www.molvis.org/molvis/v14/a57/
Redmond, T. M., Poliakov, E., Yu, S., Tsai, J.-Y., Lu, Z., & Gentleman, S. (2005). Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle. Proceedings of the National Academy of Sciences of the United States of America, 102(38), 13658-13663. https://doi.org/10.1073/pnas.0504167102
Reuter, M. S., Tawamie, H., Buchert, R., Gebril, O. H., Froukh, T., Thiel, C., … Jamra, R. A. (2017). Diagnostic yield and novel candidate genes by exome sequencing in 152 consanguineous families with neurodevelopmental disorders. JAMA Psychiatry, 74(3), 293-299. https://doi.org/10.1001/jamapsychiatry.2016.3798
Richard, M., Roepman, R., Aartsen, W. M., van Rossum, A. G. S. H., den Hollander, A. I., Knust, E., … Cremers, F. P. M. (2006). Towards understanding CRUMBS function in retinal dystrophies. Human Molecular Genetics, 15, R235-R243. https://doi.org/10.1093/hmg/ddl195
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., … Rehm, H. L. (2015). Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine, 17(5), 405-423. https://doi.org/10.1038/gim.2015.30
Riera, M., Navarro, R., Ruiz-Nogales, S., Méndez, P., Burés-Jelstrup, A., Corcóstegui, B., & Pomares, E. (2017). Whole exome sequencing using ion proton system enables reliable genetic diagnosis of inherited retinal dystrophies. Scientific Reports, 7, 1-13. https://doi.org/10.1038/srep42078
Ripamonti, C., Henning, G. B., Ali, R. R., Bainbridge, J. W., Robbie, S. J., Sundaram, V., … Stockman, A. (2014). Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65. Investigative Ophthalmology & Visual Science, 55(10), 6817-6828. https://doi.org/10.1167/iovs.14-14923
Romano, S., Boddaert, N., Desguerre, I., Hubert, L., Salomon, R., Seidenwurm, D., … De Lonlay, P. (2006). Molar tooth sign and superior vermian dysplasia: A radiological, clinical, and genetic study. Neuropediatrics, 37(1), 42-45. https://doi.org/10.1055/s-2006-923838
Sacristan-Reviriego, A., & van der Spuy, J. (2018). The Leber congenital amaurosis-linked protein AIPL1 and its critical role in photoreceptors. In Advances in experimental medicine and biology, (Vol. 1074, pp. 381-386). Cham, Switzerland: Springer International Publishing.https://doi.org/10.1007/978-3-319-75402-4_47
Sarkar, H., & Moosajee, M. (2019). Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives. Experimental Eye Research, 188, 1-6. https://doi.org/10.1016/j.exer.2019.107793
Sasaki, Y., Margolin, Z., Borgo, B., Havranek, J. J., & Milbrandt, J. (2015). Characterization of Leber congenital Amaurosis-associated NMNAT1 mutants. The Journal of Biological Chemistry, 290(28), 17228-17238. https://doi.org/10.1074/jbc.M115.637850
Sherwin, J. C., Hewitt, A. W., Ruddle, J. B., & Mackey, D. A. (2008). Genetic isolates in ophthalmic diseases. Ophthalmic Genetics, 29(4), 149-161. https://doi.org/10.1080/13816810802334341
Simonelli, F., Ziviello, C., Testa, F., Rossi, S., Fazzi, E., Bianchi, P. E., … Banfi, S. (2007). Clinical and molecular genetics of Leber's congenital amaurosis: A multicenter study of Italian patients. Investigative Ophthalmology & Visual Science, 48(9), 4284-4290. https://doi.org/10.1167/iovs.07-0068
Soens, Z. T., Branch, J., Wu, S., Yuan, Z., Li, Y., Li, H., … Chen, R. (2017). Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance. Human Mutation, 38(11), 1521-1533. https://doi.org/10.1002/humu.23294
Sohocki, M. M., Bowne, S. J., Sullivan, L. S., Blackshaw, S., Cepko, C. L., Payne, A. M., … Daiger, S. P. (2000a). Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. Nature Genetics, 24(1), 79-83. https://doi.org/10.1038/71732
Sohocki, M. M., Perrault, I., Leroy, B. P., Payne, A. M., Dharmaraj, S., Bhattacharya, S. S., … Daiger, S. P. (2000b). Prevalence of AIPL1 mutations in inherited retinal degenerative disease. Molecular Genetics and Metabolism, 70(2), 142-150. https://doi.org/10.1006/MGME.2000.3001
Srikrupa, N. N., Srilekha, S., Sen, P., Arokiasamy, T., Meenakshi, S., Bhende, M., … Soumittra, N. (2018). Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing. Clinical Genetics, 93(2), 329-339. https://doi.org/10.1111/cge.13159
Stone, E. M. (2007). Leber congenital amaurosis-A model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson memorial lecture. American Journal of Ophthalmology, 144(6), 791-811.e6. https://doi.org/10.1016/j.ajo.2007.08.022
Stone, E. M., Andorf, J. L., Whitmore, S. S., DeLuca, A. P., Giacalone, J. C., Streb, L. M., … Tucker, B. A. (2017). Clinically focused molecular investigation of 1000 consecutive families with inherited retinal disease. Ophthalmology, 124(9), 1314-1331. https://doi.org/10.1016/j.ophtha.2017.04.008
Stone, E. M., Cideciyan, A. V., Aleman, T. S., Scheetz, T. E., Sumaroka, A., Ehlinger, M. A., … Jacobson, S. G. (2011). Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. Archives of Ophthalmology (Chicago, Ill.: 1960), 129(1), 81-87. https://doi.org/10.1001/archophthalmol.2010.330
Suzuki, T., Miyake, N., Tsurusaki, Y., Okamoto, N., Alkindy, A., Inaba, A., … Matsumoto, N. (2016). Molecular genetic analysis of 30 families with Joubert syndrome. Clinical Genetics, 90(6), 526-535. https://doi.org/10.1111/cge.12836
Thompson, D. A., Gyürüs, P., Fleischer, L. L., Bingham, E. L., McHenry, C. L., Apfelstedt-Sylla, E., … Gal, A. (2000). Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. Investigative Ophthalmology & Visual Science, 41(13), 4293-4299 Retrieved from https://iovs.arvojournals.org/article.aspx?articleid=2162347
Thompson, J. A., De Roach, J. N., McLaren, T. L., Montgomery, H. E., Hoffmann, L. H., Campbell, I. R., … Lamey, T. M. (2017). The genetic profile of Leber congenital amaurosis in an Australian cohort. Molecular Genetics & Genomic Medicine, 5(6), 652-667. https://doi.org/10.1002/mgg3.321
Tsang, S. H., Burke, T., Oll, M., Yzer, S., Lee, W., Xie, Y. A., & Allikmets, R. (2014). Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype. Ophthalmology, 121(9), 1773-1782. https://doi.org/10.1016/j.ophtha.2014.03.010
Valente, E. M., Brancati, F., Silhavy, J. L., Castori, M., Marsh, S. E., Barrano, G., … International JSRD Study Group. (2006). AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Annals of Neurology, 59(3), 527-534. https://doi.org/10.1002/ana.20749
Valente, E. M., Marsh, S. E., Castori, M., Dixon-Salazar, T., Bertini, E., Al-Gazali, L., … Gleeson, J. G. (2005). Distinguishing the four genetic causes of jouberts syndrome-related disorders. Annals of Neurology, 57(4), 513-519. https://doi.org/10.1002/ana.20422
Wang, J., Zhang, V. W., Feng, Y., Tian, X., Li, F.-Y., Truong, C., … Wong, L.-J. C. (2014). Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. Investigative Ophthalmology & Visual Science, 55(10), 6213-6223. https://doi.org/10.1167/iovs.14-14936
Wang, X., Wang, H., Sun, V., Tuan, H.-F., Keser, V., Wang, K., … Chen, R. (2013). Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. Journal of Medical Genetics, 50(10), 674-688. https://doi.org/10.1136/jmedgenet-2013-101558
Weisschuh, N., Feldhaus, B., Khan, M. I., Cremers, F. P. M., Kohl, S., Wissinger, B., & Zobor, D. (2018). Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. PLoS One, 13(12), e0205380. https://doi.org/10.1371/journal.pone.0205380
Weleber, R. G., Francis, P. J., Trzupek, K. M., & Beattie, C. (2004). Leber congenital amaurosis. In M. Adam, H. Ardinger, R. Pagon, S. E. Wallace, L. Bean, K. Stephens, & A. Amemiya (Eds.), GeneReviews®. Seattle, WA: University of Washington Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1298/
Westfall, J. E., Hoyt, C., Liu, Q., Hsiao, Y.-C., Pierce, E. A., Page-McCaw, P. S., & Ferland, R. J. (2010). Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1. The Journal of Neuroscience, 30(26), 8759-8768. https://doi.org/10.1523/JNEUROSCI.5229-09.2010
Wiszniewski, W., Lewis, R. A., Stockton, D. W., Peng, J., Mardon, G., Chen, R., & Lupski, J. R. (2011). Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. Human Genetics, 129(3), 319-327. https://doi.org/10.1007/s00439-010-0928-y
Wright, A. F., Chakarova, C. F., Abd El-Aziz, M. M., & Bhattacharya, S. S. (2010). Photoreceptor degeneration: Genetic and mechanistic dissection of a complex trait. Nature Reviews. Genetics, 11(4), 273-284. https://doi.org/10.1038/nrg2717
Xiong, H. Y., Alipanahi, B., Lee, L. J., Bretschneider, H., Merico, D., Yuen, R. K. C., … Frey, B. J. (2015). RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science (New York, NY), 347(6218), 1254806. https://doi.org/10.1126/science.1254806
Xu, Y., Guan, L., Shen, T., Zhang, J., Xiao, X., Jiang, H., … Zhang, Q. (2014). Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing. Human Genetics, 133(10), 1255-1271. https://doi.org/10.1007/s00439-014-1460-2
Zhang, Q., Xu, M., Verriotto, J. D., Li, Y., Wang, H., Gan, L., … Chen, R. (2016). Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands. Scientific Reports, 6, 1-8. https://doi.org/10.1038/srep32792
Zhao, Y., Hong, D.-H., Pawlyk, B., Yue, G., Adamian, M., Grynberg, M., … Li, T. (2003). The retinitis pigmentosa GTPase regulator (RPGR)-interacting protein: Subserving RPGR function and participating in disk morphogenesis. Proceedings of the National Academy of Sciences, 100(7), 3965-3970. https://doi.org/10.1073/pnas.0637349100
Zulliger, R., Naash, M. I., Rajala, R. V. S., Molday, R. S., & Azadi, S. (2015). Impaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to Leber congenital amaurosis-1. Journal of Biological Chemistry, 290(6), 3488-3499. https://doi.org/10.1074/jbc.M114.616656