Fig. 1.

Summary of probands prioritized for whole-exome sequencing analysis. A total of 188 probands, each from a unique family, were priori-tized for analysis in this study, and of these, 40 (21%) had mutations in known disease-causing genes as determined by candidate gene screening. Thirty demonstrated a single linkage peak (16%) and were thus not candidates for whole-exome sequencing. The remaining 118 were analyzed by whole-exome sequencing, and of these, 10 were found to have mutations in genes known to cause a disease different from their initial diagnosis (8%). In all 10 cases, the whole-exome sequencing information led to a modification of the diagnosis.