title: Case report of a Spanish patient with arrhythmogenic right ventricular cardiomyopathy and palmoplantar keratoderma without plakoglobin and desmoplakin gene modifications.
abstract: We report a case of a 43 year old man from Spain, who has been diagnosed with Naxos disease. It is a hereditary disorder characterized by palmoplantar keratoderma, woolly hair and cardiomyopathy, which has been associated with a mutation in plakoglobin encoding gene in chromosome 17q21. In the patient, the direct sequencing of the plakoglobin gene discarded TG deletion at 2157 characteristic of Naxos disease. Analysis of the reported desmoplakin mutations associated with Carvajal Syndrome, another ARVC disease, that it is also accompanied with a skin and hair disorder, also failed to reveal mutations in desmoplakin gene. These results suggest the existence of other causative genes and/or other putative sites in desmoplakin/plakoglobin encoding genes than those recently published.
authors.forename: Sergio
authors.initials: S
authors.lastname: Alonso-Orgaz
authors.forename: Jose J
authors.initials: JJ
authors.lastname: Zamorano-León
authors.forename: Miguel
authors.initials: M
authors.lastname: Fernandez-Arquero
authors.forename: Julian
authors.initials: J
authors.lastname: Villacastín
authors.forename: Nicasio
authors.initials: N
authors.lastname: Perez-Castellanos
authors.forename: Maria J
authors.initials: MJ
authors.lastname: García-Torrent
authors.forename: Carlos
authors.initials: C
authors.lastname: Macaya
authors.forename: Antonio J
authors.initials: AJ
authors.lastname: López Farré
mesh_terms: D000328:Adult; D001145:Arrhythmias, Cardiac / Q000175:diagnosis / Q000235:genetics*; D009202:Cardiomyopathies / Q000175:diagnosis / Q000235:genetics*; D051180:Desmoplakins / Q000235:genetics; D003937:Diagnosis, Differential; D006201:Hair Diseases / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D017422:Sequence Analysis, DNA; D013577:Syndrome; D018497:Ventricular Dysfunction, Right / Q000175:diagnosis / Q000235:genetics*; D051185:gamma Catenin / Q000235:genetics
chemical_list: D051180:Desmoplakins; D051185:gamma Catenin