Identification of Distinct Mutations in AAGAB in Families with Type 1 Punctate Palmoplantar Keratoderma

palmoplantar keratoderma in patients from PPK01. Note the typical clinical presentation of more punctate lesions on the palms and more confluent lesions on the soles, demonstrating increased hyperkeratinization from mechanical trauma. (B) The pedigree for Israeli family PPK01 with sequencing results indicated below the patients (+ indicates wild-type,-indicates mutation). White indicates unaffected, black indicates affected and grey indicates unknown. (C) Sequence in both an unaffected and an affected individual. The mutation identified within AAGAB in this family is a 2 base pair insertion which causes a frameshift and a premature stop codon: c.562-563insTC; p.N188Sfs*3.