Premium
Delayed‐onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16
Author(s) -
Connors J.B.,
Rahil A.K.,
Smith F.J.D.,
Mclean W.H.I.,
Milstone L.M.
Publication year - 2001
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1046/j.1365-2133.2001.04199.x
Subject(s) - epidermolysis bullosa simplex , mutation , nail (fastener) , genetics , keratin , medicine , biology , dermatology , gene , materials science , metallurgy
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 Bsm I restriction site and therefore, the mutation was confirmed in the patient and excluded from both parents and 50 normal, unrelated individuals by Bsm I 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.