Use of LightCycler mutation analysis to detect type II adenine phosphoribosyltransferase deficiency in two patients with 2,8-dihydroxyadeninuria

Abstract

Recently, a number of methods have been devised for detection of mutations in the field of molecular genetics. The LightCycler system has been used for rapid PCR, while simultaneously quantifying and analyzing the amplification results. We tried to apply the LightCycler system to detect APRT*J allele mutations in two families including two children with 2,8-dihydroxyadenine urolithiasis. The first patient was a 3-year-old girl who presented with left flank pain. The second patient was a 2-year-old girl who presented with complaints of sudden dysuria. The spectrophotometric analysis of the stone fragments of both patients revealed an absorption spectrum for 2,8-DHA. We used the LightCycler system to detect APRT*J mutation. The first patient was homozygous for APRT*J/APRT*J and the second patient was compound heterozygous for APRT*J/APRT*Q0. The genetic diagnosis of APRT deficiency using this system may be useful not only as a diagnostic test for infants with known 2,8-DHA, but also as a screening of infants with a suspicion of urolithiasis. We believed that the LightCycler system still is an important means of identifying APRT*J mutation.

Adenine phosphoribosyl transferase (APRT) deficiency and a novel sequence variant in APRT with phenotypic diversity and a literature review

“…Allopurinol was prescribed for this pair of siblings in view of cost effectiveness. [55][56][57][58][59][60][61][62][63][64][65][66][67][68] In conclusion, we report a pair of siblings who have the same compound heterozygous variants in APRT of which one of the variants…”

“…However, the cost of febuxostat is higher than that of allopurinol. Allopurinol was prescribed for this pair of siblings in view of cost effectiveness 55–68 …”