Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
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AuthorsRunolfsdottir, Hrafnhildur L
Sayer, John A
Indridason, Olafur S
Edvardsson, Vidar O
Jensson, Brynjar O
Arnadottir, Gudny A
Gudjonsson, Sigurjon A
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CitationRunolfsdottir HL, Sayer JA, Indridason OS, Edvardsson VO, Jensson BO, Arnadottir GA, Gudjonsson SA, Fridriksdottir R, Katrinardottir H, Gudbjartsson D, Thorsteinsdottir U, Sulem P, Stefansson K, Palsson R. Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency. Eur J Hum Genet. 2021 Mar 11. doi: 10.1038/s41431-020-00805-6.
AbstractAdenine 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 Database, the Human Genetic Variation Database and the Korean Variant Archive. The estimated frequency of homozygous genotypes was calculated using the Hardy-Weinberg equation. Sixty-two pathogenic APRT variants were identified, including six novel variants. Most common were the missense variants c.407T>C (p.(Met136Thr)) in Japan and c.194A>T (p.(Asp65Val)) in Iceland, as well as the splice-site variant c.400 + 2dup (p.(Ala108Glufs*3)) in the European population. Twenty-nine variants were detected in at least one of the six genomic databases. The highest cumulative minor allele frequency (cMAF) of pathogenic variants outside of Japan and Iceland was observed in the Irish population (0.2%), though no APRT deficiency cases have been reported in Ireland. The large number of cases in Japan and Iceland is consistent with a founder effect in these populations. There is no evidence for widespread underdiagnosis based on the current analysis.
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- Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.
- Authors: Runolfsdottir HL, Palsson R, Agustsdottir IM, Indridason OS, Edvardsson VO
- Issue date: 2016 Mar
- Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report .
- Authors: Cochran B, Kovačíková T, Hodaňová K, Živná M, Hnízda A, Niehaus AG, Bonnecaze A, Balasubraminiam G, Ceballos-Picot I, Hawfield A, Kidd K, Kmoch S, Bleyer AJ
- Issue date: 2018 Oct
- A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.
- Authors: Nozue H, Kamoda T, Saitoh H, Ichikawa K, Taniguchi A
- Issue date: 2011 Dec
- Adenine phosphoribosyltransferase deficiency in children.
- Authors: Harambat J, Bollée G, Daudon M, Ceballos-Picot I, Bensman A, APRT Study Group.
- Issue date: 2012 Apr
- Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency.
- Authors: Iwaki T, Kusaka T, Ohashi I, Nishida T, Imai T, Itoh S
- Issue date: 2010 Jun