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
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.
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