The molecular genetic analysis of the expanding pachyonychia congenita case collection

N. J. Wilson, E. O'Toole, L. M. Milstone, C. D. Hansen, A. A. Shepherd, E. Al-Asadi, M. E. Schwartz, W. H. I. McLean, E. Sprecher, F. J. D. Smith (Lead / Corresponding author)

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41 Citations (Scopus)
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Abstract

Background

Pachyonychia congenita (PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma (PPK) and nail dystrophy, often accompanied by oral leukokeratosis, cysts and follicular keratosis. It is caused by mutations in one of five keratin genes; KRT6A, KRT6B, KRT6C, KRT16 or KRT17.


Objectives

To identify mutations in 84 new families with a clinical diagnosis of PC, recruited by the International Pachyonychia Congenita Research Registry (IPCRR) during the last few years.


Methods

Genomic DNA isolated from saliva or peripheral blood leukocytes was amplified using primers specific for the PC associated keratin genes and PCR products were directly sequenced.

Results

Mutations were identified in 84 families in the PC-associated keratin genes, comprising 46 distinct keratin mutations. Fourteen were previously unreported mutations, bringing the total number of different keratin mutations associated with PC to 105.

Conclusions

This study has confirmed at the molecular level the clinical diagnosis of PC in these families, by identifying mutations in KRT6A, KRT6B, KRT6C, KRT16 or KRT17.

Original languageEnglish
Article number12958
Pages (from-to)343-355
Number of pages13
JournalBritish Journal of Dermatology
Volume171
Issue number2
Early online date10 Mar 2014
DOIs
Publication statusPublished - Aug 2014

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