Novel keratin 17 mutations in pachyonychia congenita type 2.
J Invest Dermatol
; 116(5): 806-8, 2001 May.
Article
em En
| MEDLINE
| ID: mdl-11348474
ABSTRACT
Pachyonychia congenita type 2 is an inherited ectodermal dysplasia characterized by hypertrophic nail dystrophy and multiple pilosebaceous cysts. Focal nonepidermolytic palmoplantar keratoderma, natal teeth, and pili torti may also be present. Epithelial tissues affected in pachyonychia congenita type 2 express the keratin pair K6b/K17. Here, we report three novel heterozygous mutations in the K17 gene (KRT17A) in patients presenting with pachyonychia congenita type 2. These mutations, R94-98del (deletion of the peptide sequence RLASY) and missense mutations R94P and L95Q, are all within the 1A domain hotspot for pathogenic keratin mutations.
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Base de dados:
MEDLINE
Assunto principal:
Displasia Ectodérmica
/
Queratinas
/
Mutação
Idioma:
En
Ano de publicação:
2001
Tipo de documento:
Article