Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome Geneviève Baujat, Marlène Rio, Sylvie Rossignol, Damien.

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Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome Geneviève Baujat, Marlène Rio, Sylvie Rossignol, Damien Sanlaville, Stanislas Lyonnet, Martine Le Merrer, Arnold Munnich, Christine Gicquel, Valérie Cormier-Daire, Laurence Colleaux The American Journal of Human Genetics Volume 74, Issue 4, Pages 715-720 (April 2004) DOI: 10.1086/383093 Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 1 Methylation analysis of H19 and KCNQ1OT genes in patients (RD and FD) and normal subjects (C). A, H19 methylation was assessed by digestion with Pst1 and SmaI. The 1.8-kb Pst1 fragment is cut with SmaI, resulting in a 1-kb fragment. The H19 methylation index was determined by scanning autoradiographs and calculating the ratio (1.8-kb fragment)/(1.8-kb fragment + 1-kb fragment) × 100. B, KCNQ1OT methylation was assessed by digestion with BamHI and NotI. The 6-kb BamHI fragment is cut with NotI, resulting in a 4.2-kb fragment. The KCNQ1OT methylation index was determined by scanning autoradiographs and calculating the ratio (4.2-kb fragment)/(4.2-kb fragment + 6-kb fragment) × 100. The American Journal of Human Genetics 2004 74, 715-720DOI: (10.1086/383093) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 2 Facial features of patients with BWS who have NSD1 mutations. A and B, Patient PB at age 1 year. Note that the craniostenosis may hide the classic facial gestalt of Sotos syndrome. Frontal bossing and antimongoloid slant of the palpebral fissure are not typical. C and D, Patient BA at age 4 years. Note the absence of typical facial characteristics of Sotos syndrome: normo-versed nares and absence of prominent forehead, dolichocephaly, and prominent chin. The American Journal of Human Genetics 2004 74, 715-720DOI: (10.1086/383093) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 3 Facial features in patients with Sotos who have 11p15 anomalies. A and B, Patient FD at age 11 years. Note the downslanting palpebral fissures and pointed chin. C and D, Patient RD at age 15 mo. Note the dolichocephaly, ocular hypertelorism, frontal bossing, sparseness of hair in frontoparietal region, and antimongoloid slant of the palpebral fissures. The American Journal of Human Genetics 2004 74, 715-720DOI: (10.1086/383093) Copyright © 2004 The American Society of Human Genetics Terms and Conditions