Volume 70, Issue 6, Pages (September 2006)

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Volume 70, Issue 6, Pages 1008-1012 (September 2006) Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2- associated disorders K. Hasselbacher, R.C. Wiggins, V. Matejas, B.G. Hinkes, B. Mucha, B.E. Hoskins, F. Ozaltin, G. Nürnberg, C. Becker, D. Hangan, M. Pohl, E. Kuwertz-Bröking, M. Griebel, V. Schumacher, B. Royer-Pokora, A. Bakkaloglu, P. Nürnberg, M. Zenker, F. Hildebrandt Kidney International Volume 70, Issue 6, Pages 1008-1012 (September 2006) DOI: 10.1038/sj.ki.5001679 Copyright © 2006 International Society of Nephrology Terms and Conditions

Figure 1 Refinement of the LAMB2 gene locus by haplotype analysis in the consanguineous congenital nephrotic syndrome family F1012. Thirty-three microsatellite markers on chromosome 3p are shown on the left from p-ter to cen (top to bottom). Haplotypes are interpreted in differently shaded bars. Paternal haplotypes are drawn to the left, maternal ones to the right. The frame depicts the extent of homozygosity by descent. Physical map positions (Mb) are given for the flanking markers (underlined) and the candidate gene LAMB2 (as annotated by GenomeBrowser; http://genome.ucsc.edu). Flanking markers (underlined) are defined through lack of homozygosity in individuals II:1 and II:2 and delimit a 11.9Mb critical genetic interval for this chromosome 3 locus. Kidney International 2006 70, 1008-1012DOI: (10.1038/sj.ki.5001679) Copyright © 2006 International Society of Nephrology Terms and Conditions

Figure 2 Position of mutations in the LAMB2 gene. (a) Exon–intron structure of LAMB2 showing the position of previously published mutations in Pierson syndrome above the gene. Truncating mutations are shown in red; missense mutations in green. (b) Four different missense variants were detected in two families with congenital nephrotic syndrome (see also Table 1). Sequence traces are shown for affected individuals (top) and healthy controls (bottom). The R246Q mutation was present in individuals F1012 II-1 and II-2 in the homozygous state, whereas the C321R, N1380K, and L1393F sequence variants were present in patients F1234 II-1 and II-2 in the heterozygous state. (c) Alignment of LAMB2 sequences with lower organisms shows a high level of evolutionary conservation of mutated residues. For sequence variant, N1380K alignment of human homologs LAMB2 and LAMB1 shows substitution of N1380 by K1380. Kidney International 2006 70, 1008-1012DOI: (10.1038/sj.ki.5001679) Copyright © 2006 International Society of Nephrology Terms and Conditions