Genetic analysis of CARD14 in non-familial pityriasis rubra pilaris: A case series
Journal
Acta Dermato-Venereologica
Journal Volume
94
Journal Issue
5
Pages
587-588
Date Issued
2014
Abstract
Pityriasis rubra pilaris (PRP) is a papulosquamous disorder of unknown aetiology with distinctive but overlapping clinicopathological features with psoriasis. Recently CARD14 mutations have been found in some familial cases of both diseases (1, 2). CARD14 encodes a 1,004 amino acid protein, caspase recruitment domaincoding protein 14, which is an activator of NF-κB. Since most RPR patients are sporadic, it is worth screening for CARD14 in non-familial PRP. Here, we report a CARD14 gene analysis in 8 unrelated cases of typical sporadic PRP.© 2014 The Authors. doi: 10.2340/00015555-1814 Journal Compilation © 2014 Acta Dermato-Venereologica. ISSN 0001-5555
SDGs
Other Subjects
amino acid; card14 protein; genomic DNA; protein; unclassified drug; CARD14 protein, human; caspase recruitment domain signaling protein; guanylate cyclase; membrane protein; adolescent; adult; big dye terminator abi prism kit; blood analysis; blood sampling; CARD14 gene; case report; child; clinical feature; diagnostic kit; DNA sequence; female; fluorescence; gene; genetic analysis; genetic analyzer; genetic polymorphism; histopathology; human; human tissue; male; missense mutation; note; pityriasis rubra pilaris; polymerase chain reaction; priority journal; recurrent disease; sequence analysis; single nucleotide polymorphism; skin biopsy; Asian continental ancestry group; genetics; middle aged; pityriasis rubra pilaris; Taiwan; young adult; Adult; Asian Continental Ancestry Group; CARD Signaling Adaptor Proteins; Child; Female; Guanylate Cyclase; Humans; Male; Membrane Proteins; Middle Aged; Mutation, Missense; Pityriasis Rubra Pilaris; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; Sequence Analysis, DNA; Taiwan; Young Adult
Publisher
Medical Journals/Acta D-V
Type
note