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Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma

Research output: Contribution to journalArticle

N. Dinani, M. Ali, L. Liu, J. McGrath, J. Mellerio

Original languageEnglish
Pages (from-to)316-319
Number of pages4
JournalClinical and Experimental Dermatology
Volume42
Issue number3
Early online date16 Mar 2017
DOIs
Publication statusE-pub ahead of print - 16 Mar 2017

King's Authors

Abstract

Punctate palmoplantar keratoderma type 1 (PPPK1) is a rare autosomal dominant inherited skin disease, characterized by multiple hyperkeratotic lesions on the palms and soles. The causative gene for PPPK1 has been identified as AAGAB, which encodes α- and γ-adaptin-binding protein p34. We describe the clinical features in three unrelated families with PPPK1, and report three recurrent causative mutations in AAGAB.

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