title: A new KRT16 mutation associated with a phenotype of pachyonychia congenita.
abstract: 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.
authors.affiliation: Department of Biochemistry & Genetics, School of Sciences, University of Navarra, Pamplona, Spain.
authors.forename: Francesc
authors.initials: F
authors.lastname: Paris
authors.forename: Cristina
authors.initials: C
authors.lastname: Hurtado
authors.forename: Antoni
authors.initials: A
authors.lastname: Azón
authors.forename: Leyre
authors.initials: L
authors.lastname: Aguado
authors.forename: José L
authors.initials: JL
authors.lastname: Vizmanos
mesh_terms: D001706:Biopsy; D019295:Computational Biology; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D053536:Keratin-16 / Q000235:genetics* / Q000378:metabolism*; D007645:Keratoderma, Palmoplantar / Q000235:genetics; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D053549:Pachyonychia Congenita / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D013030:Spain
chemical_list: C507431:KRT16 protein, human; D053536:Keratin-16
keywords: KRT16; PC; keratin