Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy-Reference-Cited by-同舟云学术

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Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy

Published:2023-01-07 Issue:3 Volume:146 Page:267-272
ISSN:0012-4486
Container-title:Documenta Ophthalmologica
language:en
Short-container-title:Doc Ophthalmol

Author:

Soucy Megan,Kolesnikova Masha,Kim Angela H.,Tsang Stephen H.^ORCID

Funder

NIH Clinical Center

Foundation Fighting Blindness

New York Stem Cell Foundation

Publisher

Springer Science and Business Media LLC

Subject

Physiology (medical),Sensory Systems,Ophthalmology

Link

https://link.springer.com/content/pdf/10.1007/s10633-022-09916-5.pdf

Reference11 articles.

1. Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW et al (2018) Non-syndromic retinitis pigmentosa. Prog Retin Eye Res 66:157–186. https://doi.org/10.1016/j.preteyeres.2018.03.005

2. Boon CJ, den Hollander AI, Hoyng CB, Cremers FP, Klevering BJ, Keunen JE (2008) The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene. Prog Retin Eye Res 27(2):213–235. https://doi.org/10.1016/j.preteyeres.2008.01.002

3. Peeters M, Khan M, Rooijakkers A, Mulders T, Haer-Wigman L, Boon CJF et al (2021) PRPH2 mutation update: in silico assessment of 245 reported and 7 novel variants in patients with retinal disease. Hum Mutat 42(12):1521–1547. https://doi.org/10.1002/humu.24275

4. Daftarian N, Mirrahimi M, Sabbaghi H, Moghadasi A, Zal N, Dehghan Banadaki H et al (2019) PRPH2 mutation as the cause of various clinical manifestations in a family affected with inherited retinal dystrophy. Ophthalmic Genet 40(5):436–442. https://doi.org/10.1080/13816810.2019.1678178

5. Reeves MJ, Goetz KE, Guan B, Ullah E, Blain D, Zein WM et al (2020) Genotype-phenotype associations in a large PRPH2-related retinopathy cohort. Hum Mutat 41(9):1528–1539. https://doi.org/10.1002/humu.24065

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1. Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients;Investigative Ophthalmology & Visual Science;2024-05-14

2. Retinal Imaging Findings in Inherited Retinal Diseases;Journal of Clinical Medicine;2024-04-03

3. Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes;Biomolecules;2024-03-19

4. PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort;International Journal of Molecular Sciences;2024-03-02

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