Fig. 2

Simulated Pedigree. In this pedigree squares are used to symbolize males and circles are used to symbolize females. Mates are connected by a horizontal line, and their offspring branch out below. Individuals who have died have a slash through their symbol. As indicated by the legend, if the upper left third of an individual’s symbol is shaded black, then that individual is disease-affected. If the upper right third of an individual’s symbol is shaded, then that individual is a carrier of the causal variant. If the bottom third of an individual’s symbol is shaded, then that individual is the proband