An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.

ABSTRACT:

Background

PLA2G6-associated neurodegeneration (PLAN) comprises three diseases with overlapping features: infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (atypical NAD), and PLA2G6-related dystonia-parkinsonism. INAD is an early onset disease characterized by progressive loss of vision, muscular control, and mental skills. The prevalence of PLA2G6-associated diseases has not been previously calculated.

Methods

To provide the most accurate prevalence estimate, we utilized two independent approaches: database-based approach which included collecting variants from ClinVar, Human Gene Mutation Database (HGMD) and high confidence predicted loss-of-function (pLoF) from gnomAD (Rare Genomes Project Genetic Prevalence Estimator; GeniE), and literature-based ap

SUBMITTER: Kurtovic-Kozaric A 

PROVIDER: S-EPMC11489993 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature