A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility. (1st July 2022)

• Record Type: Journal Article
• Authors: Ou, Sokounthie; Cesarato, Nicole; Mauran, Pierre; Gellé, Marie‐Paule; Thiele, Holger; Betz, Regina C.; Viguier, Manuelle; Gusdorf, Laurence
• Is Part Of: Clinical and experimental dermatology. Volume 47:Number 7(2022)
• Page Start: 1424
• Page End: 1426
• Publication Date: 2022-07-01
• Subjects: Skin -- Diseases -- Periodicals; 616.5
• DOI: 10.1111/ced.15210
• Languages: English
• ISSNs: 0307-6938

Abstract

Abstract: A new de novo heterozygous mutation in the desmoplakin gene, causing Naxos and Carvajal disease, has been reported in a 13‐year‐old Caucasian girl, with expanded clinical phenotype. In addition to woolly hair, palmoplantar keratoderma and cardiomyopathy, she had oligodontia and nail fragility. These additional clinical features may help in the diagnosis of Naxos and Carvajal disease, known to be severe on the cardiac level.