S. Bye et al., IDENTIFICATION OF A 7-BASEPAIR DELETION IN THE ADENINE PHOSPHORIBOSYL-TRANSFERASE GENE AS A CAUSE OF 2,8-DIHYDROXYADENINE UROLITHIASIS, The Clinical investigator, 72(7), 1994, pp. 550-553
We describe a family of Turkish origin with adenine phosphoribosyltran
sferase (APRT) deficiency and renal stone disease. The proband had 2,8
-dihydroxyadenine urolithiasis but an older sister, who was also defic
ient in enzyme activity, is so far asymptomatic. The proband was homoz
ygous for a 7-bp deletion in exon 3 of the APRT gene. One allele from
each of the parents also contained this deletion. The patient and her
father were homozygous for an intragenic TaqI RFLP (1.25-kb fragment)
whereas the mother was heterozygous (1.25- and 1.91-kb fragments), ind
icating that the mutation was present on the allele carrying the 1.25
kb TaqI fragment. The deletion alters the reading frame downstream of
codon 93 and would be expected to abolish enzyme activity.