Table of Contents Author Guidelines Submit a Manuscript
BioMed Research International
Volume 2015, Article ID 485624, 11 pages
http://dx.doi.org/10.1155/2015/485624
Research Article

Targeted Next Generation Sequencing Identifies Novel Mutations in RP1 as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy

1INSERM, U968, 75012 Paris, France
2Sorbonne Universités, UPMC University, Paris 06, UMR_S 968, Institut de la Vision, 75012 Paris, France
3CNRS, UMR_7210, 75012 Paris, France
4IntegraGen SA, Genopole Campus 1, Building G8, 91030 Evry, France
5Centre Hospitalier National d’Ophtalmologie des Quinze-Vingts, DHU ViewMaintain, INSERM-DHOS CIC 1423, 75012 Paris, France
6Fondation Ophtalmologique Adolphe de Rothschild, 75019 Paris, France
7Académie des Sciences-Institut de France, 75006 Paris, France
8University College London Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK

Received 27 June 2014; Accepted 10 July 2014

Academic Editor: Calvin Yu-Chian Chen

Copyright © 2015 Said El Shamieh et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. D. T. Hartong, E. L. Berson, and T. P. Dryja, “Retinitis pigmentosa,” The Lancet, vol. 368, no. 9549, pp. 1795–1809, 2006. View at Publisher · View at Google Scholar · View at Scopus
  2. I. Audo, M. Lancelot, S. Mohand-Saïd et al., “Novel C2orf71 mutations account for approximately ~1% of cases in a large French arRP cohort,” Human Mutation, vol. 32, no. 4, pp. E2091–E2103, 2011. View at Publisher · View at Google Scholar · View at Scopus
  3. A. Anasagasti, C. Irigoyen, O. Barandika, A. López de Munain, and J. Ruiz-Ederra, “Current mutation discovery approaches in Retinitis Pigmentosa,” Vision Research, vol. 75, pp. 117–129, 2012. View at Publisher · View at Google Scholar · View at Scopus
  4. L. S. Sullivan, S. J. Bowne, D. G. Birch et al., “Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families,” Investigative Ophthalmology and Visual Science, vol. 47, no. 7, pp. 3052–3064, 2006. View at Publisher · View at Google Scholar · View at Scopus
  5. B. J. Seyedahmadi, C. Rivolta, J. A. Keene, E. L. Berson, and T. P. Dryja, “Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa,” Experimental Eye Research, vol. 79, no. 2, pp. 167–173, 2004. View at Publisher · View at Google Scholar · View at Scopus
  6. A. Ávila-Fernández, D. Cantalapiedra, E. Aller et al., “Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray,” Molecular Vision, vol. 16, pp. 2550–2558, 2010. View at Google Scholar · View at Scopus
  7. S. El Shamieh, M. Neuille, A. Terray et al., “Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy,” American Journal of Human Genetics, vol. 94, no. 4, pp. 625–633, 2014. View at Publisher · View at Google Scholar
  8. I. Audo, S. Mohand-Saïd, C. M. Dhaenens et al., “RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation,” Human Mutation, vol. 33, no. 1, pp. 73–80, 2012. View at Publisher · View at Google Scholar · View at Scopus
  9. X. Guillonneau, N. I. Piriev, M. Danciger et al., “A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus,” Human Molecular Genetics, vol. 8, no. 8, pp. 1541–1546, 1999. View at Publisher · View at Google Scholar · View at Scopus
  10. E. A. Pierce, T. Quinn, T. Meehan, T. L. McGee, E. L. Berson, and T. P. Dryja, “Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa,” Nature Genetics, vol. 22, no. 3, pp. 248–254, 1999. View at Publisher · View at Google Scholar · View at Scopus
  11. L. S. Sullivan, J. R. Heckenlively, S. J. Bowne et al., “Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa,” Nature Genetics, vol. 22, no. 3, pp. 255–259, 1999. View at Publisher · View at Google Scholar · View at Scopus
  12. A. Avila-Fernandez, M. Corton, K. M. Nishiguchi et al., “Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis,” Ophthalmology, vol. 119, no. 12, pp. 2616–2621, 2012. View at Publisher · View at Google Scholar · View at Scopus
  13. L. J. Chen, T. Y. Y. Lai, P. O. S. Tam et al., “Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa,” Investigative Ophthalmology and Visual Science, vol. 51, no. 4, pp. 2236–2242, 2010. View at Publisher · View at Google Scholar · View at Scopus
  14. S. Khaliq, A. Abid, M. Ismail et al., “Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa,” Journal of Medical Genetics, vol. 42, no. 5, pp. 436–438, 2005. View at Publisher · View at Google Scholar · View at Scopus
  15. A. M. Siemiatkowska, G. D. N. Astuti, K. Arimadyo et al., “Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family,” Molecular Vision, vol. 18, pp. 2411–2419, 2012. View at Google Scholar · View at Scopus
  16. B. Bocquet, N. A. Marzouka, M. Hebrard et al., “Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations,” Molecular Vision, vol. 19, pp. 2487–2500, 2013. View at Google Scholar
  17. E. M. Lafont, G. Manes, G. Sénéchal et al., “Patients with retinitis pigmentosa due to RP1 mutations show greater severity in recessive than in dominant cases,” Journal of Clinical & Experimental Ophthalmology, vol. 2, article 194, 2011. View at Publisher · View at Google Scholar
  18. M. Al-Rashed, L. Abu Safieh, H. Alkuraya et al., “RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism,” British Journal of Ophthalmology, vol. 96, no. 7, pp. 1018–1022, 2012. View at Publisher · View at Google Scholar · View at Scopus
  19. S. A. Riazuddin, A. Shahzadi, C. Zeitz et al., “A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness,” The American Journal of Human Genetics, vol. 87, no. 4, pp. 523–531, 2010. View at Publisher · View at Google Scholar · View at Scopus
  20. H. P. Singh, S. Jalali, R. Narayanan, and C. Kannabiran, “Genetic analysis of indian families with autosomal recessive retinitis pigmentosa by homozygosity screening,” Investigative Ophthalmology and Visual Science, vol. 50, no. 9, pp. 4065–4071, 2009. View at Publisher · View at Google Scholar · View at Scopus
  21. Q. Liu, A. Lyubarsky, J. H. Skalet, E. N. Pugh Jr., and E. A. Pierce, “RP1 is required for the correct stacking of outer segment discs,” Investigative Ophthalmology & Visual Science, vol. 44, no. 10, pp. 4171–4183, 2003. View at Publisher · View at Google Scholar · View at Scopus
  22. Q. Liu, J. Zuo, and E. A. Pierce, “The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein,” Journal of Neuroscience, vol. 24, no. 29, pp. 6427–6436, 2004. View at Publisher · View at Google Scholar · View at Scopus
  23. I. Audo, K. M. Bujakowska, T. Léveillard et al., “Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases,” Orphanet Journal of Rare Diseases, vol. 7, no. 1, article 8, 2012. View at Publisher · View at Google Scholar · View at Scopus
  24. I. Audo, J. A. Sahel, S. Mohand-Saïd et al., “EYS is a major gene for rod-cone dystrophies in France,” Human Mutation, vol. 31, no. 5, pp. E1406–E1435, 2010. View at Publisher · View at Google Scholar · View at Scopus
  25. T. G. P. Consortium, “A map of human genome variation from population-scale sequencing,” Nature, vol. 467, no. 7319, pp. 1061–1073, 2010. View at Publisher · View at Google Scholar
  26. D. M. Altshuler, R. A. Gibbs, L. Peltonen et al., “Integrating common and rare genetic variation in diverse human populations,” Nature, vol. 467, no. 7311, pp. 52–58, 2010. View at Publisher · View at Google Scholar · View at Scopus
  27. J. A. Tennessen, A. W. Bigham, T. D. O'Connor et al., “Evolution and functional impact of rare coding variation from deep sequencing of human exomes,” Science, vol. 337, no. 6090, pp. 64–69, 2012. View at Publisher · View at Google Scholar · View at Scopus
  28. M. J. Bamshad, S. B. Ng, A. W. Bigham et al., “Exome sequencing as a tool for Mendelian disease gene discovery,” Nature Reviews Genetics, vol. 12, no. 11, pp. 745–755, 2011. View at Publisher · View at Google Scholar · View at Scopus
  29. W. J. Kent, C. W. Sugnet, T. S. Furey et al., “The human genome browser at UCSC,” Genome Research, vol. 12, no. 6, pp. 996–1006, 2002. View at Publisher · View at Google Scholar · View at Scopus
  30. I. A. Adzhubei, S. Schmidt, L. Peshkin et al., “A method and server for predicting damaging missense mutations,” Nature Methods, vol. 7, no. 4, pp. 248–249, 2010. View at Publisher · View at Google Scholar · View at Scopus
  31. P. Kumar, S. Henikoff, and P. C. Ng, “Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm,” Nature Protocols, vol. 4, no. 7, pp. 1073–1082, 2009. View at Publisher · View at Google Scholar · View at Scopus
  32. F. O. Desmet, D. Hamroun, M. Lalande, G. Collod-Bëroud, M. Claustres, and C. Béroud, “Human splicing finder: an online bioinformatics tool to predict splicing signals,” Nucleic Acids Research, vol. 37, no. 9, article no. e67, 2009. View at Publisher · View at Google Scholar · View at Scopus
  33. P. D. Stenson, E. V. Ball, M. Mort, A. D. Phillips, K. Shaw, and D. N. Cooper, “The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution,” in Current Protocols in Bioinformatics, chapter 1–13, 2012. View at Google Scholar
  34. I. F. A. C. Fokkema, J. T. Den Dunnen, and P. E. M. Taschner, “LOVD: easy creation of a locus-specific sequence variation database using an “LSDB-in-a-Box” approach,” Human Mutation, vol. 26, no. 2, pp. 63–68, 2005. View at Publisher · View at Google Scholar · View at Scopus
  35. S. A. Miller, D. D. Dykes, and H. F. Polesky, “A simple salting out procedure for extracting DNA from human nucleated cells,” Nucleic Acids Research, vol. 16, no. 3, p. 1215, 1988. View at Publisher · View at Google Scholar · View at Scopus
  36. C. Zeitz, B. Kloeckener-Gruissem, U. Forster et al., “Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness,” American Journal of Human Genetics, vol. 79, no. 4, pp. 657–667, 2006. View at Publisher · View at Google Scholar · View at Scopus
  37. S. A. Riazuddin, F. Zulfiqar, Q. Zhang et al., “Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families,” Investigative Ophthalmology and Visual Science, vol. 46, no. 7, pp. 2264–2270, 2005. View at Publisher · View at Google Scholar · View at Scopus