Clinical and genetic characteristics of 10 Japanese patients with PROM1 ‐associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population-Reference-Cited by-同舟云学术

Clinical and genetic characteristics of 10 Japanese patients with PROM1 ‐associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population

Published:2020-08-20 Issue:3 Volume:184 Page:656-674
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,Oishi Akio⁵,Yang Lizhu¹²,Arno Gavin¹³⁴⁶^ORCID,Pontikos Nikolas¹³⁴^ORCID,Yoshitake Kazutoshi⁷,Fujinami‐Yokokawa Yu¹³⁸⁹,Liu Xiao¹²¹⁰,Hayashi Takaaki¹¹,Katagiri Satoshi¹¹,Mizobuchi Kei¹¹,Mizota Atsushi¹²,Shinoda Kei¹²¹³,Nakamura Natsuko¹¹²¹⁴,Kurihara Toshihide²,Tsubota Kazuo²,Miyake Yozo¹¹⁵¹⁶,Iwata Takeshi⁷,Tsujikawa Akitaka⁵,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. Department of Ophthalmology and Visual Sciences Kyoto University Graduate School of Medicine Kyoto Japan

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

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

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

9. Division of Public Health Yokokawa Clinic Suita Japan

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

11. Department of Ophthalmology The Jikei University School of Medicine Tokyo Japan

12. Department of Ophthalmology Teikyo University Tokyo Japan

13. Department of Ophthalmology Saitama Medical University Saitama Japan

14. Department of Ophthalmology The University of Tokyo Tokyo Japan

15. Aichi Medical University Nagakute Japan

16. Next vision, Kobe Eye Center Hyogo Japan

Funder

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31826

Reference86 articles.

1. Retinitis Pigmentosa withEYSMutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations

2. Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy

3. Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2

4. Identification of Mutations Causing Inherited Retinal Degenerations in the Israeli and Palestinian Populations Using Homozygosity Mapping

5. Prominin-1 Is a Novel Regulator of Autophagy in the Human Retinal Pigment Epithelium

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