Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene Maria Cristina Digilio, Emanuela Conti, Anna Sarkozy, Rita Mingarelli,

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Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene Maria Cristina Digilio, Emanuela Conti, Anna Sarkozy, Rita Mingarelli, Tania Dottorini, Bruno Marino, Antonio Pizzuti, Bruno Dallapiccola The American Journal of Human Genetics Volume 71, Issue 2, Pages 389-394 (August 2002) DOI: 10.1086/341528 Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 1 Facial appearance of patient 2 The American Journal of Human Genetics 2002 71, 389-394DOI: (10.1086/341528) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 2 SSCP and sequence analysis of the two identified mutations. Anomalous patterns of DNA SSCP in patients with ML/LEOPARD syndrome are indicated by asterisks (*). a, Mutation 836A→G in exon 7. b, Mutation 1403C→T in exon 12. The American Journal of Human Genetics 2002 71, 389-394DOI: (10.1086/341528) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 3 PTPN11 protein structure and location of the two missense mutations reported. N-SH2 and C-SH2 are the N-terminal and C-terminal tandemly arranged SH2 domains, followed by a protein PTP domain at the C-terminus, where the two mutational hotspots are localized. Functional domains' amino acid boundaries are indicated. The American Journal of Human Genetics 2002 71, 389-394DOI: (10.1086/341528) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 4 Structure of PTPN11 protein representation with mutated amino acids. Cα-traces of the N-SH2 (green), C-SH2 (clear green), and PTP (red) domains are shown. Mutated residues are indicated by thick lines. Most mutations (thick, white lines) in patients with NS who have been described elsewhere (Tartaglia et al. 2001) are located in the N-SH2 domain. The ML/LEOPARD mutations (thick, cyan lines) are located in the PTP domain. This model was made by use of the program Deep View Swiss-PdbViewer. The American Journal of Human Genetics 2002 71, 389-394DOI: (10.1086/341528) Copyright © 2002 The American Society of Human Genetics Terms and Conditions