title: Novel keratin 17 mutations in pachyonychia congenita type 2.
abstract: Pachyonychia congenita type 2 is an inherited ectodermal dysplasia characterized by hypertrophic nail dystrophy and multiple pilosebaceous cysts. Focal nonepidermolytic palmoplantar keratoderma, natal teeth, and pili torti may also be present. Epithelial tissues affected in pachyonychia congenita type 2 express the keratin pair K6b/K17. Here, we report three novel heterozygous mutations in the K17 gene (KRT17A) in patients presenting with pachyonychia congenita type 2. These mutations, R94-98del (deletion of the peptide sequence RLASY) and missense mutations R94P and L95Q, are all within the 1A domain hotspot for pathogenic keratin mutations.
authors.affiliation: Epithelial Genetics Group, Human Genetics Unit, Department of Molecular and Cellular Pathology, Ninewells Medical School, Dundee, UK. fjsmith@hgmp.mrc.ac.uk
authors.forename: F J
authors.initials: FJ
authors.lastname: Smith
authors.forename: C M
authors.initials: CM
authors.lastname: Coleman
authors.forename: N M
authors.initials: NM
authors.lastname: Bayoumy
authors.forename: R
authors.initials: R
authors.lastname: Tenconi
authors.forename: J
authors.initials: J
authors.lastname: Nelson
authors.forename: A
authors.initials: A
authors.lastname: David
authors.forename: W H
authors.initials: WH
authors.lastname: McLean
mesh_terms: D001483:Base Sequence / Q000235:genetics; D002675:Child, Preschool; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000473:pathology; D005260:Female; D017353:Gene Deletion; D006801:Humans; D006965:Hyperplasia; D007633:Keratins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D020125:Mutation, Missense; D009262:Nails / Q000473:pathology
chemical_list: D007633:Keratins