AAGAB基因的突变是常染色体显性点状掌跖角化病的基础。

Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma.

作者信息

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

机构信息

Department of Dermatology, Worthing Hospital, Western Hospitals NHS Trust, Worthing, West Sussex, UK.

St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, UK.

出版信息

Clin Exp Dermatol. 2017 Apr;42(3):316-319. doi: 10.1111/ced.13049. Epub 2017 Feb 27.

DOI:10.1111/ced.13049

PMID:28239884

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.

摘要

1型点状掌跖角化病（PPPK1）是一种罕见的常染色体显性遗传性皮肤病，其特征为手掌和脚底出现多个角化过度性损害。已确定PPPK1的致病基因为AAGAB，它编码α和γ衔接蛋白结合蛋白p34。我们描述了三个不相关的PPPK1家系的临床特征，并报告了AAGAB中的三个复发性致病突变。