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

Author:

Bjeloš Mirjana123ORCID,Bušić Mladen123ORCID,Ćurić Ana13ORCID,Bosnar Damir123ORCID,Šarić Borna1ORCID,Marković Leon13,Kuzmanović Elabjer Biljana123ORCID,Rak Benedict1ORCID

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

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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