Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy-Reference-Cited by-同舟云学术

Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy

Published:2021-02-24 Issue:3 Volume:42 Page:266-275
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Huang Zhiqin¹²,Zhang Dan¹²,Thompson Jennifer A.³⁴,Jamuar Saumya S.⁵⁶⁷,Roshandel Danial¹²^ORCID,Jennings Luke²^ORCID,Mellough Carla¹²,Charng Jason¹²,Chen Shang-Chih²,McLaren Terri L.¹³⁴,Lamey Tina M.¹³⁴,Chelva Enid⁴,De Roach John N.¹³⁴,Chan Choi Mun⁸,McLenachan Samuel¹²,Chen Fred K.¹²³⁹¹⁰^ORCID

Affiliation:

1. Centre for Ophthalmology and Visual Science, the University of Western Australia, Perth, Western Australia, Australia

2. Lions Eye Institute, Perth, Western Australia, Australia

3. Australian Inherited Retinal Disease Registry and DNA Bank (AIRDR), Sir Charles Gairdner Hospital, Perth, Western Australia, Australia

4. Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia

5. Genetics Service, Department of Paediatrics, KK Women’s and Children’s Hospital, Singapore

6. Paediatric Academic Clinical Programme, Duke-NUS Medical School, Singapore

7. SingHealth Duke-NUS Genomic Medicine Centre, Singapore

8. Medical Retina Department, Singapore National Eye Centre, Singapore

9. Department of Ophthalmology, Royal Perth Hospital, Perth, Western Australia, Australia

10. Department of Ophthalmology, Perth Children’s Hospital, Nedlands, Western Australia, Australia

Funder

Department of Health, Government of Western Australia

National Health and Medical Research Council

Australian Foundation for the Prevention of Blindness

McCusker Foundation

Lee and Low Family

Retina Australia

University of Western Australia

Publisher

Informa UK Limited

Subject

Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2021.1891551

Reference20 articles.

1. Haploinsufficiency ofRCBTB1is associated with Coats disease and familial exudative vitreoretinopathy

2. Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1 , a Gene Implicated in Ubiquitination

3. Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations

4. Standardized Human Pedigree Nomenclature: Update and Assessment of the Recommendations of the National Society of Genetic Counselors

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