Fig. 1. Palmoplantar keratoderma associated with deafness in a family carrying mutation 
E42 in GJB2. (A) Mild, diffuse hyperkeratosis of the sole with accentuated skin markings and marked callus formation over the pressure points (II-1 in C). (B) Transgradient, erythematous, hyperkeratotic plaques on the left foot (III-2 in C). (C) Pedigree of the three-generation family. Black symbols indicate HI; spotted symbols indicate PPK; white symbols represent unaffected individuals. Individual genotypes for both mutations, 35delG and 124delAGG, are shown below symbols. (D) Sequence chromatograms for 35delG in II-1, II-2 and III-2 (left to right). (E) Sequence chromatograms for 125delAGG in II-2, III-2 and the sub-cloned mutant allele (left to right).
