Fig. 1. Identification of mutations in the CDH3 gene of five consanguineous Pakistani families. (A) Pedigrees and clinical appearance of affected individuals of five Pakistani families (Families 1-5) with either HJMD or EEM syndrome. In Families 1-3, arrows indicate affected individuals whose clinical photographs are shown. (B) A novel mutation 490insA (arrow) in Family 1. (C) A novel mutation Ivs10-1G>T (arrows) in Families 2 and 3. (D) A novel mutation E118G in Family 4 (top) and amino-acid sequence alignment of human classical cadherins and P-cadherin of other species (bottom). The glutamic acid residue at position 118 is colored light blue. (E) The recurrent mutation N322I (arrows) in Family 5.