RP2 ‐associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype–phenotype association-Reference-Cited by-同舟云学术

RP2 ‐associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype–phenotype association

Published:2020-09 Issue:3 Volume:184 Page:675-693
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:Am J Med Genet

Author:

Fujinami Kaoru¹²³⁴^ORCID,Liu Xiao¹²⁵,Ueno Shinji⁶,Mizota Atsushi⁷,Shinoda Kei⁷⁸,Kuniyoshi Kazuki⁹,Fujinami‐Yokokawa Yu¹³¹⁰¹¹,Yang Lizhu¹²,Arno Gavin¹³⁴¹²^ORCID,Pontikos Nikolas¹³⁴^ORCID,Kameya Shuhei¹³,Kominami Taro⁶,Terasaki Hiroko⁶,Sakuramoto Hiroyuki⁹,Nakamura Natsuko¹⁷¹⁴,Kurihara Toshihide²,Tsubota Kazuo²,Miyake Yozo¹¹⁵¹⁶,Yoshiake Kazutoshi¹⁷,Iwata Takeshi¹⁷,Tsunoda Kazushige¹,

Affiliation:

1. Laboratory of Visual Physiology, Division of Vision Research National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center Tokyo Japan

2. Department of Ophthalmology Keio University School of Medicine Tokyo Japan

3. UCL Institute of Ophthalmology London UK

4. Moorfields Eye Hospital London UK

5. Southwest Hospital/Southwest Eye Hospital Third Military Medical University (Army Medical University) Chongqing China

6. Department of Ophthalmology Nagoya University Graduate School of Medicine Nagoya Japan

7. Department of Ophthalmology Teikyo University Tokyo Japan

8. Department of Ophthalmology Saitama Medical University, Moroyama Campus Saitama Japan

9. Department of Ophthalmology Kindai University Faculty of Medicine Osaka‐Sayama Japan

10. Department of Health Policy and Management Keio University School of Medicine Tokyo Japan

11. Division of Public Health, Yokokawa Clinic Suita Japan

12. North East Thames Regional Genetics Service UCL Great Ormond Street Institute of Child Health, NHS Foundation Trust London UK

13. Department of Ophthalmology Nippon Medical School Chiba Hokusoh Hospital Inzai Japan

14. Department of Ophthalmology The University of Tokyo Tokyo Japan

15. Aichi Medical University Nagakute Japan

16. Next vision, Kobe Eye Center Kobe Japan

17. Division of Molecular and Cellular Biology National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center Tokyo Japan

Funder

Japan Agency for Medical Research and Development

Moorfields Eye Hospital NHS Foundation Trust

Ministry of Education, Culture, Sports, Science and Technology

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31830

Reference74 articles.

1. Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes

2. Population genetic studies of retinitis pigmentosa;Boughman J. A.;American Journal of Human Genetics,1980

3. A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa

4. Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

5. Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane

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