Population Frequency of Undiagnosed Fabry Disease in the General Population.

ABSTRACT:

Introduction

Fabry disease is an X-linked disorder that results from pathogenic GLA variants and can now be treated. Most studies of its population frequency have examined only males or attendees at kidney failure or cardiac clinics. This study determined the prevalence of undiagnosed Fabry disease from predicted pathogenic GLA variants in the general population.

Methods

The Genome Aggregation Database (gnomAD) was examined for predicted pathogenic GLA variants based on variant rarity (≤5), and transcript effect in 4 computational tools (CADD >20, PP2 >0.95, SIFT <0.05, Mutation Taster - Disease-causing) and amino acid conservation in vertebrates in a Clustal.

Results

Predicted pathogenic variants in GLA occurred in 1 in 3225 of the gnomAD

SUBMITTER: Kermond-Marino A 

PROVIDER: S-EPMC10334396 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature