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. 2002 May 1;70(6):1555–1563. doi: 10.1086/340847

Figure 1.

Figure 1

Cosegregation of PTPN11 mutations and Noonan phenotype. A, Restriction analysis of PTPN11 PCR product containing exon 8, showing segregation of the 922A→G mutation in the original large family with NS that shows linkage to 12q24 (Jamieson et al. 1994). The family tree is shown above. The mutation introduces an EcoRV restriction site, resulting in 246- and 366-bp products, whereas the wild-type allele remains undigested (612 bp). B, DHPLC elution profiles of PTPN11 exon 8 PCR products, showing segregation of the 923A→G change in a family inheriting Noonan-like/multiple giant-cell lesion syndrome (Bertola et al. 2001). A single peak characterizes the wild-type profile, and a variant profile, characterized by two peaks, is observed in all affected family members. The family tree is shown on the left. The gray-shaded symbol indicates an indeterminate phenotype.