Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database.

ABSTRACT:

Purpose

The RPE65-associated retinopathies include biallelic Leber congenital amaurosis 2 and severe early childhood-onset RP, and monoallelic RP with choroidal involvement. The population frequencies of these diseases have previously only been estimated from epidemiological studies, but are deduced here from the number of predicted pathogenic heterozygous or carrier variants in a normal cohort using bioinformatic analyses.

Methods

RPE65 variants were downloaded from gnomAD v4.1 (n = 807,162) and annotated with ANNOVAR. The population frequency of heterozygous predicted pathogenic variants was calculated from the numbers of pathogenic structural and copy number variants, null variants, rare missense changes classified disease-causing computationally, and from founder variant

SUBMITTER: Abdul R 

PROVIDER: S-EPMC12400985 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature