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. Author manuscript; available in PMC: 2012 Nov 10.
Published in final edited form as: Nature. 2012 Apr 4;485(7397):246–250. doi: 10.1038/nature10989

Figure 1. De novo mutation events in autism spectrum disorder.

Figure 1

a Haplotype phasing using informative markers shows a strong parent-of-origin bias with 41/51 de novo events occurring on the paternally inherited haplotype. b and c, Box and whisker plots for 189 SSC probands. b, The paternal estimated age at conception versus the number of observed de novo point mutations (0, n = 53; 1, n = 65; 2, n = 44; 3+, n = 27). c, Decreased nonverbal IQ is significantly associated with an increasing number of “extreme” mutation events (0, n = 138; 1, n = 41; 2+, n = 10), both with and without CNVs (Supplementary Discussion). d, Browser images showing CNVs identified in del(18)(q12.2q21.1) syndrome region. Truncating point mutation in SETBP1 occurs within the critical region, identifying the likely causative locus. Each red (deletion) and green (duplication) line represents an identified CNV in cases (solid lines) versus controls (dashed lines), with arrowheads showing point mutation.

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