New and recurrent AAGAB mutations in punctate palmoplantar keratoderma

Low‐dose etretinate shows promise in management of punctate palmoplantar keratoderma type 1: Case report and review of the published work

“…Therefore, AAGAB null mutations have been speculated to result in the increased half‐life of several RTK in basal keratinocytes, leading to hyperproliferative hyperkeratosis on the palmoplantar regions of PPKP1 patients . To date, 28 mutations have been identified in 54 families with PPKP1 . Despite the discovery of the genetic cause of PPKP1, however, pathogenesis‐based therapies are still unavailable.…”

“…1,3 To date, 28 mutations have been identified in 54 families with PPKP1. 4,5 Despite the discovery of the genetic cause of PPKP1, however, pathogenesis-based therapies are still unavailable. Instead, current management of the disease is mainly directed toward reduction of hyperkeratosis, using topical keratolytics, topical vitamin D 3 and/or topical or systemic retinoids.…”

Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma

“…In 2003, the PPPK1 gene was mapped to chromosome 15q22‐q24, and was recently identified as the α‐ and γ‐adaptin binding protein gene, AAGAB , with 38 mutations reported worldwide since then …”

“…In 2003, the PPPK1 gene was mapped to chromosome 15q22-q24, 2 and was recently identified as the aand c-adaptin binding protein gene, AAGAB, 3 with 38 mutations reported worldwide since then. [4][5][6][7][8][9][10] We report the clinical and molecular characteristics of three patients from unrelated British families with clinical features of PPPK1. Direct sequencing of AAGAB, using primers and reaction conditions as previously described, 5 was undertaken in the probands after informed consent was obtained and in accordance with the principles of the Declaration of Helsinki.…”

Two Japanese familial cases of punctate palmoplantar keratoderma caused by a novel AAGAB mutation, c.191_194delCAAA

“…To our knowledge, 27 distinct AAGAB mutations were previously reported in familial and sporadic cases of PPPK1, including 11 deletion, nine nonsense, three splice site, three insertion, and one insertion-deletion mutation [1][2][3][4][5][6][7][8]. All of these were heterozygous loss-of-function mutations except for one splice-site mutation, c.451 + 1G > A, leading to an in-frame deletion that is expected to result in the loss of 30 amino acids in p34, corresponding to the entire exon 4 in AAGAB [5].…”