title: Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16.
abstract: A young girl with clinical features of pachyonychia congenita type 1 was unusual in that the typical skin and nail changes were not noted until the age of 6 years. Direct sequencing of the KRT16A gene, encoding keratin K16, revealed a novel mutation K354N in the central 2B domain of the K16 polypeptide. The mutation created a new BsmI restriction site and therefore, the mutation was confirmed in the patient and excluded from both parents and 50 normal, unrelated individuals by BsmI digestion of KRT16A polymerase chain reaction products. This is the first time a mutation has been described in this location in a keratin other than K14, where similar mutations cause the milder Weber-Cockayne and/or Köbner types of epidermolysis bullosa simplex.
authors.affiliation: Yale University School of Medicine, Department of Dermatology, 500 LCI, PO Box 208059, New Haven, CT 06520-8059, U.S.A.
authors.forename: J B
authors.initials: JB
authors.lastname: Connors
authors.forename: A K
authors.initials: AK
authors.lastname: Rahil
authors.forename: F J
authors.initials: FJ
authors.lastname: Smith
authors.forename: W H
authors.initials: WH
authors.lastname: McLean
authors.forename: L M
authors.initials: LM
authors.lastname: Milstone
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D007633:Keratins / Q000235:genetics*; D020125:Mutation, Missense; D009264:Nails, Malformed / Q000235:genetics* / Q000473:pathology
chemical_list: D007633:Keratins