Volume 71, Issue 6, Pages (March 2007)

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Volume 71, Issue 6, Pages 574-581 (March 2007) The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect M.T.F. Wolf, B.B. Beck, F. Zaucke, A. Kunze, J. Misselwitz, J. Ruley, T. Ronda, A. Fischer, F. Eifinger, C. Licht, E. Otto, B. Hoppe, F. Hildebrandt Kidney International Volume 71, Issue 6, Pages 574-581 (March 2007) DOI: 10.1038/sj.ki.5002089 Copyright © 2007 International Society of Nephrology Terms and Conditions

Figure 1 Pedigrees and results of the haplotype analysis in all kindreds with the C744G (Cys248Trp) mutation. Circles denote female patients, squares denote male patients. Filled symbols denote affected individuals, crosshatches denote deceased individuals. Roman numerals denote generations. Arrows denote individuals in whom DNA was available for haplotype analysis. Inferred haplotypes are shown in parenthesis. Differently shaded bars symbolize haplotypes. Paternal haplotypes are drawn to the left, maternal haplotypes to the right. Marker positions are indicated with left individuals. In two kindreds (K10 and K11), no DNA samples of the parents were available. Therefore, in these two individuals, the alleles could not clearly assigned to one haplotype. Under the hypothesis of a shared haplotype, the haplotype colored in black showed cosegregation with the phenotype in all eight living affected individuals of the five different kindreds. Only the microsatellite D16S3054 shows different alleles in K8 and F739 (240bp) compared to K7, K10, and K11 (244bp). This difference can be attributed to a mutation in the microsatellite repeat. Kidney International 2007 71, 574-581DOI: (10.1038/sj.ki.5002089) Copyright © 2007 International Society of Nephrology Terms and Conditions

Figure 2 Urinary UMOD excretion in relation to total urinary protein excretion. The first four lanes on the left-hand side show Coomassie urinary protein staining for individual K8 (lane 1), healthy controls (lanes 2 and 3), and individual K11 (lane 4), indicating additional bands of urinary protein in K11. The band with a size of 66kDa corresponds to albumin. On the right-hand side, the corresponding Western blot for urinary UMOD staining is shown. In lanes 2 and 3, strong staining for UMOD in the healthy controls was found. In lane 1 (K8) and lane 4 (K11), UMOD staining revealed almost no band for K8 and only a weak band for K11. Kidney International 2007 71, 574-581DOI: (10.1038/sj.ki.5002089) Copyright © 2007 International Society of Nephrology Terms and Conditions

Figure 3 Mutations in the UMOD gene. The upper sequence shows the wild-type (WT) sequence and the lower sequence reveals the mutation (MUT) in each family. The resulting amino acids are indicated below nucleotide sequences. Both mutations are located in exon 4. The altered nucleotide and amino acids are shown in red. (a) In affected individuals of families F739, K7, K8, K10, and K11, a heterozygous C744G substitution was detected resulting in a Cys248Trp amino-acid exchange. (b) Affected individuals in family A214 showed a heterozygous T229G substitution, causing a Cys77Gly change. Kidney International 2007 71, 574-581DOI: (10.1038/sj.ki.5002089) Copyright © 2007 International Society of Nephrology Terms and Conditions