Volume 57, Issue 1, Pages (January 2000)

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Volume 57, Issue 1, Pages 232-239 (January 2000) Isolated hypercalciuria with mutation in CLCN5: Relevance to idiopathic hypercalciuria Steven J. Scheinman, M.D, Jeremy P.D. Cox, Sarah E. Lloyd, Simon H.s. Pearce, Page V. Salenger, Richard R. Hoopes, David A. Bushinsky, Oliver Wrong, John R. Asplin, Craig B. Langman, Anthony G.W. Norden, Rajesh V. Thakker Kidney International Volume 57, Issue 1, Pages 232-239 (January 2000) DOI: 10.1046/j.1523-1755.2000.00774.x Copyright © 2000 International Society of Nephrology Terms and Conditions

Figure 1 Identification of the Gly506Glu mutation in selected members of the extended pedigree previously reported with XRN. (A) The mutation GGG→GAG in codon 506 is shown and leads to substitution of glutamine for glycine. The mutation creates a restriction endonuclease recognition sequence for the enzyme Mnl1, as indicated. (B) Selected members of generations III, IV, and V of the previously reported30 extended pedigree with XRN are represented. The presence or absence of LMW proteinuria (upper right quadrant), hypercalciuria (lower right quadrant), nephrolithiasis or nephrocalcinosis (lower left quadrant), and renal insufficiency (upper left quadrant) are indicated in the patient symbols. Carrier females with a normal phenotype are indicated by a dot within a circle, including a member of generation II (II-4). The male with isolated hypercalciuria is individual 4 in generation V. Aligned below the pedigree is a photograph of an agarose gel demonstrating detection of the Gly506Glu mutation by restriction enzyme analysis as described by Lloyd et al11. Each patient symbol in the pedigree is aligned above the lane in the gel representing the restriction digest for that patient, in addition to three normal unrelated individuals (N1, N2, and N3.) (C) Restriction map of the normal [wild-type (WT)] and mutant (m) sequences are shown indicating PCR primers (arrows) and the Mnl1 digestion site. The WT sequence, lacking the Mnl1 site, survives digestion at a size of 129 bp, as in the three normal individuals (B). The mutant sequence is digested to yield fragments of 48 and 81 bp, as occurs with affected males V-1, V-4, IV-8, and III-15 in the family (B). Carrier females (III-6, IV-3, IV-5, and II-4) are heterozygous for WT and mutant fragments. Kidney International 2000 57, 232-239DOI: (10.1046/j.1523-1755.2000.00774.x) Copyright © 2000 International Society of Nephrology Terms and Conditions

Figure 2 Excretion of retinol-binding protein (A, ▵) and k;2-microglobulin (B, ○) in affected males (AM) and carrier females (CF) with X-linked nephrolithiasis/Dent's disease, and adults and children with idiopathic hypercalciuria (IH) or normals (N). Each symbol represents the mean of all measurements in a single patient, and the number of patients represented in each group is indicated below the axis. The horizontal lines represent the established upper limit of normal for that measurement, and for retinol-binding protein (RBP), this value is different in adults and children. The AM and CF groups each included several children. Kidney International 2000 57, 232-239DOI: (10.1046/j.1523-1755.2000.00774.x) Copyright © 2000 International Society of Nephrology Terms and Conditions