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BioMed Research International
Volume 2015, Article ID 485624, 11 pages
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.

Citations to this Article [10 citations]

The following is the list of published articles that have cited the current article.

  • Elise Boulanger-Scemama, Eric Souied, Saddek Mohand-Saïd, José-Alain Sahel, Christina Zeitz, Isabelle Audo, Said El Shamieh, Vanessa Démontant, Christel Condroyer, Aline Antonio, Christelle Michiels, Fiona Boyard, Jean-Paul Saraiva, and Mélanie Letexier, “Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: Mutation spectrum and new genotype-phenotype correlation,” Orphanet Journal of Rare Diseases, vol. 10, no. 1, 2015. View at Publisher · View at Google Scholar
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  • Fang Lv, Xiao-jie Xu, Jian-yi Wang, Yi Liu, Yan Jiang, Ou Wang, Wei-bo Xia, Xiao-ping Xing, and Mei Li, “A novel mutation in CLDN16 results in rare familial hypomagnesaemia with hypercalciuria and nephrocalcinosis in a Chinese family,” Clinica Chimica Acta, 2016. View at Publisher · View at Google Scholar
  • Fang Lv, Xiao-jie Xu, Jian-yi Wang, Yi Liu, Asan, Jia-wei Wang, Li-jie Song, Yu-wen Song, Yan Jiang, Ou Wang, Wei-bo Xia, Xiao-ping Xing, and Mei Li, “Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta,” Journal of Human Genetics, 2016. View at Publisher · View at Google Scholar
  • Rosalia D'Angelo, Pasquale Aragona, Antonina Sidoti, Luigi Donato, Isabella Venza, and Concetta Scimone, “Possible protective role of the ABCA4 gene c.1268A>G missense variant in Stargardt disease and syndromic retinitis pigmentosa in a Sicilian family: Preliminary data,” International Journal of Molecular Medicine, vol. 39, no. 4, pp. 1011–1020, 2017. View at Publisher · View at Google Scholar
  • Adrian Dockery, Kirk Stephenson, David Keegan, Niamh Wynne, Giuliana Silvestri, Peter Humphries, Paul F. Kenna, Matthew Carrigan, and G. Jane Farrar, “Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations,” Genes, vol. 8, no. 11, pp. 304, 2017. View at Publisher · View at Google Scholar
  • Elvira Velardi, and Lucia Denaro, “Association of three polymorphisms in RP1 hotspot region in sicilian patients with retinitis pigmentosa: Preliminary data,” EuroMediterranean Biomedical Journal, vol. 12, no. 18, pp. 87–90, 2017. View at Publisher · View at Google Scholar
  • Kentaro Kurata, Katsuhiro Hosono, and Yoshihiro Hotta, “Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa,” Documenta Ophthalmologica, 2018. View at Publisher · View at Google Scholar
  • Anika Nanda, Michelle E. McClements, Penny Clouston, Morag E. Shanks, and Robert E. MacLaren, “The Location of Exon 4 Mutations in RP1 Raises Challenges for Genetic Counseling and Gene Therapy,” American Journal of Ophthalmology, vol. 202, pp. 23–29, 2019. View at Publisher · View at Google Scholar
  • Konstantinos Nikopoulos, Katarina Cisarova, Mathieu Quinodoz, Hanna Koskiniemi-Kuendig, Noriko Miyake, Pietro Farinelli, Atta Ur Rehman, Muhammad Imran Khan, Andrea Prunotto, Masato Akiyama, Yoichiro Kamatani, Chikashi Terao, Fuyuki Miya, Yasuhiro Ikeda, Shinji Ueno, Nobuo Fuse, Akira Murakami, Yuko Wada, Hiroko Terasaki, Koh-Hei Sonoda, Tatsuro Ishibashi, Michiaki Kubo, Frans P. M. Cremers, Zoltán Kutalik, Naomichi Matsumoto, Koji M. Nishiguchi, Toru Nakazawa, and Carlo Rivolta, “A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy,” Nature Communications, vol. 10, no. 1, 2019. View at Publisher · View at Google Scholar