title: A plakophilin-1 gene mutation in an egyptian family with ectodermal dysplasia-skin fragility syndrome.
abstract: Ectodermal dysplasia-skin fragility syndrome (ED-SFS) is a rare genodermatosis caused by mutations in the PKP1 gene, encoding the desmosomal plaque protein plakophilin-1. Since its initial description in 1997, few individuals with this disorder have been reported to date. Here, we present the first Egyptian cases of ED-SFS, carrying a novel homozygous mutation in the PKP1 gene. Direct sequencing of the amplified DNA from the affected cases disclosed a G-to-T transversion at nucleotide position c.203-1 within intron 1 of PKP1 (c.203-1G>T). To the best of our knowledge, this mutation has not been previously described in the databases.
authors.affiliation: Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
authors.forename: Ebtesam M
authors.initials: EM
authors.lastname: Abdalla
authors.affiliation: Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany.
authors.forename: Cristina
authors.initials: C
authors.lastname: Has
keywords: Ectodermal dysplasia-skin fragility syndrome; Egypt; Plakophilin-1 gene