Pathogenicity reclassification of the <i>RPE65</i> c.1580A>G (p.His527Arg) - a case report-Reference-Cited by-同舟云学术

Pathogenicity reclassification of the RPE65 c.1580A>G (p.His527Arg) - a case report

Published:2022-07-29 Issue: Volume: Page:1-5
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Bjeloš Mirjana¹²³^ORCID,Bušić Mladen¹²³^ORCID,Ćurić Ana¹³^ORCID,Bosnar Damir¹²³^ORCID,Šarić Borna¹^ORCID,Marković Leon¹³,Kuzmanović Elabjer Biljana¹²³^ORCID,Rak Benedict¹^ORCID

Affiliation:

1. Department of Ophthalmology, Reference Center of the Ministry of Health of the Republic of Croatia for Pediatric Ophthalmology and Strabismus, University Hospital “Sveti Duh”, Zagreb, Croatia

2. Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, Osijek, Croatia

3. Faculty of Dental Medicine and Health Osijek, Josip Juraj Strossmayer University of Osijek, Osijek, Croatia

Funder

funding

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2022.2106496

Reference27 articles.

1. ClinVar. NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) [Internet]. Bethesda (MD): National Library of Medicine. National Center for Biotechnology Information; 2021 [accessed Dec 24 2021]. https://www.ncbi.nlm.nih.gov/clinvar/variation/98873/.

2. A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

3. Rescue of Enzymatic Function for Disease-associated RPE65 Proteins Containing Various Missense Mutations in Non-active Sites

4. Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle

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