title: Identification of a recurrent mutation in keratin 6a in a patient with overlapping clinical features of pachyonychia congenita types 1 and 2.
abstract: 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.
authors.affiliation: The Department of Dermatology, Columbia University, and the Department of Dermatology, St. Luke's Roosevelt Hospital, New York, USA.
authors.forename: K M
authors.initials: KM
authors.lastname: Ward
authors.forename: F E
authors.initials: FE
authors.lastname: Cook-Bolden
authors.forename: A M
authors.initials: AM
authors.lastname: Christiano
authors.forename: J T
authors.initials: JT
authors.lastname: Celebi
mesh_terms: 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
chemical_list: D007633:Keratins