Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma. (1st April 2017)

• Record Type: Journal Article
• Authors: Dinani, N.; Ali, M.; Liu, L.; McGrath, J.; Mellerio, J.
• Is Part Of: Clinical and experimental dermatology. Volume 42:Number 3(2017)
• Page Start: 316
• Page End: 319
• Publication Date: 2017-04-01
• Subjects: Skin -- Diseases -- Periodicals; 616.5
• DOI: 10.1111/ced.13049
• Languages: English
• ISSNs: 0307-6938

Abstract

Summary: 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 .