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

AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer

“…To date, ~50 AAGAB mutations have been reported in PPPK1 families from different populations including European, Asian, and African families. 3,4,9 -15 Except for a single Canadian family included in a study reported by Furniss et al, AAGAB mutations have not been assessed in Canadian PPPK1 families. 13 In this study we describe AAGAB mutations and the incidence of cancer in 18 unrelated Canadian families with PPPK1.…”

New and recurrent AAGAB mutations in punctate palmoplantar keratoderma

“…Recently, two consecutive studies identified the causative gene for PPPK1 as AAGAB , located on chromosome 15q23, a locus to which the causal gene for PPPK1 was previously mapped . Subsequently, further mutations in AAGAB were described in families from several countries worldwide . In this study, we investigated five European families with a clinical diagnosis of PPPK1.…”

Clinical and molecular investigation of Buschke‐Fischer‐Brauer in consanguineous Tunisian families

“…The mutations were distributed over the whole length of the AAGAB gene and including 28 loss‐of‐function variants. According to the literature, geographic distribution of AAGAB mutations is relatively wide with PPPK‐BFB families reported in Europe, Middle‐East, Asiaand Tunisia.…”

“…Recently, PPPK‐BFB has been shown to be associated with mutations in the AAGAB gene in multiple families from several countries worldwide and in the COL14A 1 gene in only Chinese families, suggesting a genetic heterogeneity of the disease . To date, 29 mutations within AAGAB gene have been reported to underlie PPPK‐BFB disease; among them the c.348_349delAG was previously identified in three Tunisian families with PPPK‐BFB …”