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Giehl, K.A.* ; Herzinger, T.* ; Wolff, H.* ; Sárdy, M.* ; von Braunmuehl, T.* ; Dekeule-Neer, V.* ; Sznajer, Y.* ; Tennstedt, D.* ; Boes, P.* ; Rapprich, S.* ; Wagner, N.* ; Betz, R.C.* ; Braun-Falco, M.* ; Strom, T.M. ; Ruzicka, T.* ; Eckstein, G.N.

Eight novel mutations confirm the role of AAGAB in punctate palmoplantar keratoderma type 1 (Buschke-Fischer-Brauer) and show broad phenotypic variability.

Acta Derm.-Venereol. 96, 468-472 (2016)

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Punctate palmoplantar keratoderma (PPKP1; Buschke-Fischer-Brauer) is a rare autosomal dominant inherited skin disease characterized by multiple hyperkeratotic papules involving the palms and soles. Mutations have been found at 2 loci, on chromosomes 15q22-15q24 and 8q24.13-8q24.21. We recently identified mutations in 3 families, in the AAGAB gene on 15q, which encodes the alpha- and gamma-adaptin-binding protein p34. The current study examined 14 additional families, comprising a total of 26 affected individuals and identified 8 novel mutations in 9 families. In one family a mutation representing a known SNP that was present only in the affected individuals was found, and in 4 other families, previously reported mutations were found (1, 2). These results confirm the role of AAGAB in PPKP1. Our findings suggest that there is no correlation with age, but with mechanical factors. No additional obvious genotype phenotype correlation was observed, even when comparing different types of mutations. Rather, identical genotypes presented a very broad interfamilial and intrafamilial variability of phenotypes.

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Publication type Article: Journal article

Document type Scientific Article

Corresponding Author

Keywords Punctate Palmoplantar Keratoderma ; Ppkp1 ; Aagab ; Phenotype-genotype Correlation; Families; Identification; Papulosa; Disease; Locus; Palms; Soles; Gene

ISSN (print) / ISBN 0001-5555

e-ISSN 1651-2057

Journal Acta Dermato-Venereologica

Quellenangaben Volume: 96, Issue: 4, Pages: 468-472

Publisher Acta Dermato-Venereologica

Publishing Place Uppsala

Non-patent literature Publications

Reviewing status Peer reviewed

Institute(s) Institute of Human Genetics (IHG)