Titre
Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex
Type
article
Institution
UNIL/CHUV/Unisanté + institutions partenaires
Périodique
Auteur(s)
Smith, F. J.
Auteure/Auteur
Corden, L. D.
Auteure/Auteur
Rugg, E. L.
Auteure/Auteur
Ratnavel, R.
Auteure/Auteur
Leigh, I. M.
Auteure/Auteur
Moss, C.
Auteure/Auteur
Tidman, M. J.
Auteure/Auteur
Hohl, D.
Auteure/Auteur
Huber, M.
Auteure/Auteur
Kunkeler, L.
Auteure/Auteur
Munro, C. S.
Auteure/Auteur
Lane, E. B.
Auteure/Auteur
McLean, W. H.
Auteure/Auteur
Liens vers les personnes
Liens vers les unités
ISSN
0022-202X
Statut éditorial
Publié
Date de publication
1997-02
Volume
108
Numéro
2
Première page
220
Dernière page/numéro d’article
3
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Feb
Research Support, Non-U.S. Gov't --- Old month value: Feb
Résumé
Pachyonychia congenita (PC) is a group of autosomal dominant ectodermal dysplasias in which the main phenotypic characteristic is hypertrophic nail dystrophy. In the Jackson-Lawler form (PC-2), pachyonychia is accompanied by multiple pilosebaceous cysts, natal teeth, and hair abnormalities. By direct sequencing of genomic PCR products, we report heterozygous K17 missense mutations in the same conserved protein motif in a further five PC-2 families (K17 N92S in one familial and three sporadic cases; K17 Y98D in one familial case) confirming that mutations in this gene are a common cause of PC-2. We also show heterozygous missense mutations in K17 (N92H and R94H) in two families diagnosed as steatocystoma multiplex. Mild nail defects were observed in some but not all of these patients on clinical re-evaluation of these families. All the K17 mutations reported here were shown to co-segregate with the disease in the pedigrees analyzed and were excluded from 100 unaffected, unrelated chromosomes by restriction enzyme analysis of K17 genomic PCR products. We conclude that phenotypic variation is observed with K17 mutations, as is the case with other keratin disorders.
Sujets
PID Serval
serval:BIB_1B71143072EE
PMID
Open Access
Oui
Date de création
2008-01-25T15:36:26.100Z
Date de création dans IRIS
2025-05-20T16:43:08Z