New and recurrent  AAGAB  mutations in punctate palmoplantar keratoderma

E Pohler,W.H.I Mclean,P.A Gregersen,F.J.D Smith,M Zamiri,M Huber,D Hohl,S.E Boonen,M Sommerlund,M Ramsing

doi:10.1111/bjd.12927

Abstract

New and recurrent <i> <scp>AAGAB</scp> </i> mutations in punctate palmoplantar keratoderma

Highlights

The 31-year-old proband from family 1, a four-generation family of Swiss origin (Fig. 1a), presented with small, horny nails and hyperkeratosis of the palms and soles
Asterisks show individuals in whom AAGAB was sequenced. (b) The palm of the proband of family 3 showing the presence of multiple hyperkeratotic lesions. (c) Haematoxylin and eosin staining of a punch biopsy from palmar skin from the proband in family 3
We identified a previously unreported heterozygous nonsense mutation p.Gln88*; c.262C>T (Fig. 1d,e) within the GTPase domain of the p34 protein (Fig. 2e)

Summary

Introduction

The 31-year-old proband from family 1, a four-generation family of Swiss origin (Fig. 1a), presented with small, horny nails and hyperkeratosis of the palms and soles. New and recurrent AAGAB mutations in punctate palmoplantar keratoderma (c) Palms of the father of the proband showing multiple hyperkeratotic lesions.

Results

Conclusion