Nature Communications (Jun 2019)
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy
- 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,
- Carlo Rivolta
Affiliations
- Konstantinos Nikopoulos
- Unit of Medical Genetics, Department of Computational Biology, University of Lausanne
- Katarina Cisarova
- Unit of Medical Genetics, Department of Computational Biology, University of Lausanne
- Mathieu Quinodoz
- Unit of Medical Genetics, Department of Computational Biology, University of Lausanne
- Hanna Koskiniemi-Kuendig
- Unit of Medical Genetics, Department of Computational Biology, University of Lausanne
- Noriko Miyake
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Pietro Farinelli
- Unit of Medical Genetics, Department of Computational Biology, University of Lausanne
- Atta Ur Rehman
- Unit of Medical Genetics, Department of Computational Biology, University of Lausanne
- Muhammad Imran Khan
- Department of Human Genetics, Radboud University Medical Center
- Andrea Prunotto
- Unit of Medical Genetics, Department of Computational Biology, University of Lausanne
- Masato Akiyama
- Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences
- Yoichiro Kamatani
- Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences
- Chikashi Terao
- Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences
- Fuyuki Miya
- Department of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University
- Yasuhiro Ikeda
- Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University
- Shinji Ueno
- Department of Ophthalmology, Nagoya University Graduate School of Medicine
- Nobuo Fuse
- Department of Integrative Genomics, Tohoku Medical Megabank Organization
- Akira Murakami
- Department of Ophthalmology, Juntendo University School of Medicine
- Yuko Wada
- Yuko Wada Eye Clinic
- Hiroko Terasaki
- Department of Ophthalmology, Nagoya University Graduate School of Medicine
- Koh-Hei Sonoda
- Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University
- Tatsuro Ishibashi
- Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University
- Michiaki Kubo
- RIKEN Center for Integrative Medical Sciences
- Frans P. M. Cremers
- Department of Human Genetics, Radboud University Medical Center
- Zoltán Kutalik
- Institute of Social and Preventive Medicine, Lausanne University Hospital
- Naomichi Matsumoto
- Department of Human Genetics, Yokohama City University Graduate School of Medicine
- Koji M. Nishiguchi
- Department of Ophthalmology, Tohoku University Graduate School of Medicine
- Toru Nakazawa
- Department of Ophthalmology, Tohoku University Graduate School of Medicine
- Carlo Rivolta
- Unit of Medical Genetics, Department of Computational Biology, University of Lausanne
- DOI
- https://doi.org/10.1038/s41467-019-10746-4
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 7
Abstract
Genetic variants in RP1 can cause hereditary retinal degeneration (HRD). Here, in a genomic screen of 331 Japanese HRD patients, the authors identify a near-polymorphic RP1 variant that causes Mendelian HRD in trans with an Alu insertion and otherwise is associated with HRD according to a complex model of inheritance.
