Identification of a recurrent mutation in keratin 6a in a patient with overlapping clinical features of pachyonychia congenita types 1 and 2.
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.
Ward
K M
KM
The Department of Dermatology, Columbia University, and the Department of Dermatology, St. Luke's Roosevelt Hospital, New York, USA.
Cook-Bolden
F E
FE
Christiano
A M
AM
Celebi
J T
JT
D000328:Adult; D004252:DNA Mutational Analysis; D004476:Ectodermal Dysplasia / Q000235:genetics*; D006801:Humans; D007633:Keratins / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D009260:Nail Diseases / Q000235:genetics; D010375:Pedigree
D007633:Keratins