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Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1

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Presentation on theme: "Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1"— Presentation transcript:

1 Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1
Arjan P.M. de Brouwer, Kelly L. Williams, John A. Duley, André B.P. van Kuilenburg, Sander B. Nabuurs, Michael Egmont-Petersen, Dorien Lugtenberg, Lida Zoetekouw, Martijn J.G. Banning, Melissa Roeffen, Ben C.J. Hamel, Linda Weaving, Robert A. Ouvrier, Jennifer A. Donald, Ron A. Wevers, John Christodoulou, Hans van Bokhoven  The American Journal of Human Genetics  Volume 81, Issue 3, Pages (September 2007) DOI: /520706 Copyright © 2007 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Pedigree of family F (A) and the overlapping linkage intervals between family F (B) and family N032 (C). Indicated are the positions of the genes analyzed in patients as described in this article (bold font) and as previously described by de Brouwer et al.29 The American Journal of Human Genetics  , DOI: ( /520706) Copyright © 2007 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Chromatograms showing the nucleotide changes in PRPS1. A, c.398A→C transversion in exon 3 in individual III-2 of family F. B, Segregation of the mutant allele within family F (see also fig. 1A), as shown by ApoI restriction analysis. C, c.455T→C transition in exon 4 in individual IV-2 of family N032. D, Segregation of the mutant allele within family N032 (family members are numbered as in the work of Arts et al.14), as shown by BsmFI restriction analysis. The American Journal of Human Genetics  , DOI: ( /520706) Copyright © 2007 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Three-dimensional model of PRS-I as a hexamer (A and B) and close-ups of the two regions of PRS-I that contain the mutations p.Q133P (C and E) and p.L152P (D and F). The red spheres indicate the positions of the mutated amino acid residues in the PRS-I hexamer. The yellow dotted lines represent the hydrogen bonds. The American Journal of Human Genetics  , DOI: ( /520706) Copyright © 2007 The American Society of Human Genetics Terms and Conditions

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