Volume 72, Issue 12, Pages (December 2007)

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Date of download: 6/22/2016 Copyright © The American College of Cardiology. All rights reserved. From: Clinical Features of Hypertrophic Cardiomyopathy.

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Volume 72, Issue 12, Pages 1520-1526 (December 2007) Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis M.T.F. Wolf, S. Saunier, J.F. O'Toole, N. Wanner, T. Groshong, M. Attanasio, R. Salomon, T. Stallmach, J.A. Sayer, R. Waldherr, M. Griebel, J. Oh, T.J. Neuhaus, U. Josefiak, C. Antignac, E.A. Otto, F. Hildebrandt Kidney International Volume 72, Issue 12, Pages 1520-1526 (December 2007) DOI: 10.1038/sj.ki.5002630 Copyright © 2007 International Society of Nephrology Terms and Conditions

Figure 1 Histopathology in patients with RPGRIP1L mutations. Histopathology from patient F138 II-1 (a) and patient A762 II-3 (b) showed the characteristic triad of NPHP with interstitial fibrosis, patchy lymphocytic infiltrate, cystic dilation of tubules, and tubular basement membrane disruption. Hematoxylin–eosin, original magnification × 50. Kidney International 2007 72, 1520-1526DOI: (10.1038/sj.ki.5002630) Copyright © 2007 International Society of Nephrology Terms and Conditions

Figure 2 Pedigrees and results of the mutational analysis in all kindreds with RPGRIP1L mutations. Circles denote females and squares denote males. Filled symbols denote affected individuals and crosshatches denote deceased individuals. Roman numerals denote generations. Arrows denote individuals in whom DNA was available for haplotype analysis. 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 sequences. Mutations in (a–c) are located in exon 15. (a and b) In affected individuals of kindreds A166 (II-3) and F138 (II-1 and II-2), a homozygous c.1843A>C was detected resulting in a T615P amino-acid exchange. (c) The affected individual II-3 in family A762 showed a homozygous c.1897T>C substitution, causing a C633R change. (d) The affected subject II-1 in A1183 carried a heterozygous splice-site mutation IVS23-2A>G at a 100% conserved site. (e) The affected individual II-1 in family F631 showed a heterozygous c.1177G>A substitution, causing an E393K change. The altered nucleotides are indicated by an arrowhead, and the altered amino acid is underlined in the WT and is in red and underlined in the mutated sequence. Kidney International 2007 72, 1520-1526DOI: (10.1038/sj.ki.5002630) Copyright © 2007 International Society of Nephrology Terms and Conditions