Detalle Publicación

ARTÍCULO
A new KRT16 mutation associated with a phenotype of Pachyonychia Congenita
Autores: Paris Huguet, Francesc; Hurtado Rudi, Cristina; Azón, Antoni; Aguado Gil, Leire; Vizmanos Pérez, José Luis
Título de la revista: EXPERIMENTAL DERMATOLOGY
ISSN: 0906-6705
Volumen: 22
Número: 12
Páginas: 838 - 839
Fecha de publicación: 2013
Resumen:
Pachyonychia congenita is a rare, autosomal dominant genetic disease characterized by painful palmoplantar keratoderma and hypertrophic nail dystrophy. This disorder is caused by mutations in any one of five cytoskeletal keratin proteins, K6a, K6b, K6c, K16 and K17. Here, we describe a new p.Leu421Pro (c.1262T>C) mutation in the highly conserved helix termination motif of K16 in a large Spanish family. Bioinformatic analyses as well as previous descriptions in the literature of homologous mutations in other keratin-coding genes show that this mutation is probably causative of the disease.