Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.

ABSTRACT: Adenine phosphoribosyltransferase deficiency is a rare, autosomal recessive disorder of purine metabolism that causes nephrolithiasis and progressive chronic kidney disease. The small number of reported cases indicates an extremely low prevalence, although it has been suggested that missed diagnoses may play a role. We assessed the prevalence of APRT deficiency based on the frequency of causally-related APRT sequence variants in a diverse set of large genomic databases. A thorough search was carried out for all APRT variants that have been confirmed as pathogenic under recessive mode of inheritance, and the frequency of the identified variants examined in six population genomic databases: the deCODE genetics database, the UK Biobank, the 100,000 Genomes Project, the Genome Aggregation Data

SUBMITTER: Runolfsdottir HL 

PROVIDER: S-EPMC8298615 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature