Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.

Giehl KA, Herzinger T, Wolff H, Sardy M, Von Braunmuehl T, Dekeule-Neer V, Sznajer Y, Tennstedt D, Boes P, Rapprich S, Wagner N, Betz RC, Braun-Falco M, Strom T, Ruzicka T, Eckstein GN (2016)

Publication Type: Journal article

Publication year: 2016

Journal

Acta Dermato-Venereologica Society for Publication of Acta Dermato-Venereologica

Book Volume: 96

Pages Range: 468-72

Journal Issue: 4

DOI: 10.2340/00015555-2304

Abstract

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 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.

Involved external institutions

Klinikum Darmstadt DE Germany (DE) Ludwig-Maximilians-Universität (LMU) DE Germany (DE) University College London (UCL) GB United Kingdom (GB) Rheinische Friedrich-Wilhelms-Universität Bonn DE Germany (DE) Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt (HMGU) / Helmholtz Munich DE Germany (DE)

How to cite

APA:

Giehl, K.A., Herzinger, T., Wolff, H., Sardy, M., Von Braunmuehl, T., Dekeule-Neer, V.,... Eckstein, G.N. (2016). Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability. Acta Dermato-Venereologica, 96(4), 468-72. https://doi.org/10.2340/00015555-2304

MLA:

Giehl, Kathrin A., et al. "Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability." Acta Dermato-Venereologica 96.4 (2016): 468-72.

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