Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations Katrina Tatton-Brown, Jenny Douglas, Kim Coleman,

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Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations Katrina Tatton-Brown, Jenny Douglas, Kim Coleman, Geneviève Baujat, Trevor R.P. Cole, Soma Das, Denise Horn, Helen E. Hughes, I. Karen Temple, Francesca Faravelli, Darrel Waggoner, Seval Türkmen, Valérie Cormier-Daire, Alexandre Irrthum, Nazneen Rahman The American Journal of Human Genetics Volume 77, Issue 2, Pages 193-204 (August 2005) DOI: 10.1086/432082 Copyright © 2005 The American Society of Human Genetics Terms and Conditions

Figure 1 Facial features and NSD1 mutations in patients with Sotos syndrome. A, Typical facial features of patients with different NSD1 abnormalities: 5q35 microdeletion, partial NSD1 deletion, truncating mutation, and missense mutation. B, Number of truncating and missense mutations identified in different NSD1 domains, demonstrating that missense mutations occur only within functional domains. The number of truncating mutations is at the top of each section of NSD1, and the number of missense mutations is shown at the bottom. Functional domains are shown as shaded boxes.C, Position of missense mutations (red) in PHD and C5HCH domains, showing bias toward mutations at consensus cysteine and histidine residues (black). The American Journal of Human Genetics 2005 77, 193-204DOI: (10.1086/432082) Copyright © 2005 The American Society of Human Genetics Terms and Conditions

Figure 2 Cumulative frequency distribution graphs for patients with NSD1 mutations or 5q35 microdeletions. A, Height distribution. B, Head circumference distribution. The distributions are significantly different for height (Wilcoxon rank-sum test) but not for head circumference. The American Journal of Human Genetics 2005 77, 193-204DOI: (10.1086/432082) Copyright © 2005 The American Society of Human Genetics Terms and Conditions

Figure 3 Bar graph showing the frequency and severity of learning disability in patients with NSD1 mutations (blackened) and in those with 5q35 microdeletions (hatched). The actual number of patients is given above each bar. The distributions are significantly different (Wilcoxon rank-sum test). The American Journal of Human Genetics 2005 77, 193-204DOI: (10.1086/432082) Copyright © 2005 The American Society of Human Genetics Terms and Conditions