Volume 57, Issue 6, Pages (June 2000)

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Volume 57, Issue 6, Pages 2215-2220 (June 2000) XDH gene mutation is the underlying cause of classical xanthinuria: A second report David Levartovsky, Ayala Lagziel, Oded Sperling, Uri Liberman, Michael Yaron, Tatsuo Hosoya, Kimiyoshi Ichida, Hava Peretz Kidney International Volume 57, Issue 6, Pages 2215-2220 (June 2000) DOI: 10.1046/j.1523-1755.2000.00082.x Copyright © 2000 International Society of Nephrology Terms and Conditions

Figure 1 Biochemical diagnosis of classical xanthinuria in an Iranian-Jewish family. The pedigree shows an asymptomatic index case and her nephew, the product of consanguineous marriage, who presented with nephrolithiasis (*). Each column of the table below the pedigree shows data of the respective sibling depicted in the pedigree. Note the markedly reduced jejunal XDH activity and the decreased uric acid and increased oxypurines levels in the serum in the patient. Kidney International 2000 57, 2215-2220DOI: (10.1046/j.1523-1755.2000.00082.x) Copyright © 2000 International Society of Nephrology Terms and Conditions

Figure 2 Analysis of XDH-linked microsatellite markers. Autoradiograms show an analysis of microsatellite markers. Allele numbers are indicated on the right side of each panel. Lane R, reference CEPH DNA. Lane C, control DNA. Lane P, patient DNA. Note that the patient is homozygous for alleles 4, 5, and 7 of markers D2S352 (top), D2S2374 (middle), and D2S364 (bottom), respectively, located in the vicinity of the XDH gene. Kidney International 2000 57, 2215-2220DOI: (10.1046/j.1523-1755.2000.00082.x) Copyright © 2000 International Society of Nephrology Terms and Conditions

Figure 3 Identification of 1658insC mutation. (A) SSCP analysis of exon 16 of the XDH gene. Note the slower moving band in patient (lane P) as compared with control DNA (lane C). (B) Partial nucleotide sequence and predicted amino acid sequence of exon 16 of the XDH gene, in the control and patient. An insertion of a C nucleotide in position 1658 of the XDH cDNA encoding an altered amino acid sequence is evident in patient's DNA. (C) PCR-Drd I restriction enzyme assay. The ethidium bromide-stained agarose gel shows in the patient (lane P) an undigested fragment of 146 bp as expected for a homozygous 1658insC mutation, while in a control DNA (lane C) the expected normal digestion product of 123 bp. Kidney International 2000 57, 2215-2220DOI: (10.1046/j.1523-1755.2000.00082.x) Copyright © 2000 International Society of Nephrology Terms and Conditions

Figure 4 Schematic representation of normal (top) and mutated (bottom) XDH protein. The binding sites for the various cofactors are shown. Note that the 1658insC mutation in exon 16 results in a highly truncated protein that lacks the molybdopterin binding site. Also lost are amino acid residues encoded by exon 22, which are needed for the formation of the putative NAD-binding domain. Kidney International 2000 57, 2215-2220DOI: (10.1046/j.1523-1755.2000.00082.x) Copyright © 2000 International Society of Nephrology Terms and Conditions