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Identification of a recurrent mutation in keratin 6a in a patient with overlapping clinical features of pachyonychia congenita types 1 and 2
Author(s) -
Ward K. M.,
CookBolden F. E.,
Christiano A. M.,
Çelebi J. T.
Publication year - 2003
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1046/j.1365-2230.2003.01263.x
Subject(s) - mutation , nail (fastener) , genetics , keratin , nail disease , medicine , biology , gene , dermatology , psoriasis , materials science , metallurgy
Summary Pachyonychia congenita is characterized by hypertrophic nail dystrophy and associated ectodermal features. PC‐1 subtype is associated with mutations in keratins 6a or 16, whereas PC‐2 subtype is linked to mutations in keratins 6b or 17. The correlation between the mutated gene and the type of PC has generally been consistent. In this report, we describe a case with overlapping clinical features of PC‐1 and PC‐2 in which a mutation in K6a was identified.