Figure 1.

Pedigree structure of the family, Standard symbols were used. Round symbols indicate females, squares indicate males, diagonal lines indicate that the individual is deceased. Diamonds were used to disguise gender, numbers inside symbols indicate number of children. The solid arrowhead indicates the proband. Black full-filled symbols indicate individuals with clinical features of EA1. Asterisks indicate those family members that underwent whole-exome sequencing (proband and parents) or co-segregation analysis (sister).