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

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.…”

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.…”

Punctate palmoplantar keratoderma type 1 with a novel AAGAB frameshift mutation: intrafamilial phenotype variation due to ageing

“…They also mentioned that madarosis may be due to oedema occurring at the site of percutaneous injection. Rubegni et al 5 reported one patient with Meige hereditary lymphoedema presenting with alopecia of the lateral third of eyebrows and conjunctival oedema. Alopecia of the lateral third of the eyebrows is a common sign of obstruction in lymphatic drainage of the periorbital region.…”

“…So far, three heterozygous mutations in four Japanese cases have been reported. [4][5][6] In PPKP1, it is thought that there is no genotype-phenotype correlation. 3 Not only are there interfamilial differences in phenotypic severity, but there are also intrafamilial differences in such severity.…”