scholarly journals Adenine Phosphoribosyltransferase Deficiency: A Rare Cause of Recurrent Urolithiasis

2017 ◽  
Vol 3 (1) ◽  
pp. 49-51 ◽  
Author(s):  
Ata Jaffer ◽  
Adrian Joyce ◽  
Philip Koenig ◽  
Chandra Shekhar Biyani
Keyword(s):  
Adenine Phosphoribosyltransferase ◽  
Adenine Phosphoribosyltransferase Deficiency

scholarly journals Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency

2021 ◽  
Author(s):  
Hrafnhildur L. Runolfsdottir ◽  
John A. Sayer ◽  
Olafur S. Indridason ◽  
Vidar O. Edvardsson ◽  
Brynjar O. Jensson ◽  
...  
Keyword(s):  
Allele Frequency ◽  
Autosomal Recessive Disorder ◽  
European Population ◽  
Adenine Phosphoribosyltransferase ◽  
Genomic Databases ◽  
Pathogenic Variants ◽  
Adenine Phosphoribosyltransferase Deficiency ◽  
Variation Database ◽  
The Uk ◽  
Aprt Deficiency

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.

scholarly journals Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjects

2019 ◽  
Vol 128 (1-2) ◽  
pp. 144-150
Author(s):  
Hrafnhildur L. Runolfsdottir ◽  
Runolfur Palsson ◽  
Unnur A. Thorsteinsdottir ◽  
Olafur S. Indridason ◽  
Inger M.Sch. Agustsdottir ◽  
...  
Keyword(s):  
Adenine Phosphoribosyltransferase ◽  
Control Subjects ◽  
Adenine Phosphoribosyltransferase Deficiency ◽  
Healthy Control

Adenine phosphoribosyltransferase deficiency in man

1973 ◽  
Vol 55 (5) ◽  
pp. 614-620 ◽  
Author(s):  
Irving H. Fox ◽  
Jean C. Meade ◽  
William N. Kelley
Keyword(s):  
Adenine Phosphoribosyltransferase ◽  
Adenine Phosphoribosyltransferase Deficiency

scholarly journals Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey

2016 ◽  
Vol 9 (6) ◽  
pp. 800-806
Author(s):  
Gowrie S. Balasubramaniam ◽  
Monica Arenas-Hernandez ◽  
Emilia Escuredo ◽  
Lynette Fairbanks ◽  
Tony Marinaki ◽  
...  
Keyword(s):  
United Kingdom ◽  
Adenine Phosphoribosyltransferase ◽  
Novel Mutations ◽  
Cross Sectional Survey ◽  
Cross Sectional ◽  
The United Kingdom ◽  
Adenine Phosphoribosyltransferase Deficiency
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