New and recurrent AAGAB mutations in punctate palmoplantar keratoderma

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

doi:10.1111/bjd.12927

New and recurrent AAGAB mutations in punctate palmoplantar keratoderma

Elizabeth Pohler, M. Huber, S. E. Boonen, M. Zamiri, P. A. Gregersen, M. Sommerlund, M. Ramsing, D. Hohl, W. H. I. McLean, F. J. Smith (Lead / Corresponding author)

Biological Chemistry and Drug Discovery

Research output: Contribution to journal › Letter › peer-review

10 Citations (Scopus)

306 Downloads (Pure)

Abstract

Punctate palmoplantar keratoderma type I (PPPK1; also known as Buschke-Fischer-Brauer type; OMIM 148600) is an autosomal dominant disorder of keratinization, characterised by multiple hyperkeratotic lesions on palms and soles that usually start in early adolescence but may also start later in life (1). Lesions increase in size and number with advancing age and may coalesce over pressure points to form larger plaques. Recently, two consecutive studies identified the causative gene for PPPK1 as AAGAB (2, 3), located on chromosome 15q23, a locus to which the causal gene for PPPK1 was previously mapped (4). This article is protected by copyright. All rights reserved.

Original language	English
Pages (from-to)	433-436
Number of pages	4
Journal	British Journal of Dermatology
Volume	171
Issue number	2
Early online date	7 Aug 2014
DOIs	https://doi.org/10.1111/bjd.12927
Publication status	Published - 18 Aug 2014

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10.1111/bjd.12927Licence: CC BY

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Dermatology and Genetic Medicine (Strategic Grant) (Joint with Kings College London)
Barton, G. (Investigator), Campbell, P. (Investigator), Hickerson, R. (Investigator), Leigh, I. (Investigator), McLean, I. (Investigator) & Wyatt, P. (Investigator)
1/08/12 → 30/04/19
Project: Research

Cite this

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title = "New and recurrent AAGAB mutations in punctate palmoplantar keratoderma",

abstract = "Punctate palmoplantar keratoderma type I (PPPK1; also known as Buschke-Fischer-Brauer type; OMIM 148600) is an autosomal dominant disorder of keratinization, characterised by multiple hyperkeratotic lesions on palms and soles that usually start in early adolescence but may also start later in life (1). Lesions increase in size and number with advancing age and may coalesce over pressure points to form larger plaques. Recently, two consecutive studies identified the causative gene for PPPK1 as AAGAB (2, 3), located on chromosome 15q23, a locus to which the causal gene for PPPK1 was previously mapped (4). This article is protected by copyright. All rights reserved.",

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AU - Pohler, Elizabeth

AU - Huber, M.

AU - Boonen, S. E.

AU - Zamiri, M.

AU - Gregersen, P. A.

AU - Sommerlund, M.

AU - Ramsing, M.

AU - Hohl, D.

AU - McLean, W. H. I.

AU - Smith, F. J.

PY - 2014/8/18

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N2 - Punctate palmoplantar keratoderma type I (PPPK1; also known as Buschke-Fischer-Brauer type; OMIM 148600) is an autosomal dominant disorder of keratinization, characterised by multiple hyperkeratotic lesions on palms and soles that usually start in early adolescence but may also start later in life (1). Lesions increase in size and number with advancing age and may coalesce over pressure points to form larger plaques. Recently, two consecutive studies identified the causative gene for PPPK1 as AAGAB (2, 3), located on chromosome 15q23, a locus to which the causal gene for PPPK1 was previously mapped (4). This article is protected by copyright. All rights reserved.

AB - Punctate palmoplantar keratoderma type I (PPPK1; also known as Buschke-Fischer-Brauer type; OMIM 148600) is an autosomal dominant disorder of keratinization, characterised by multiple hyperkeratotic lesions on palms and soles that usually start in early adolescence but may also start later in life (1). Lesions increase in size and number with advancing age and may coalesce over pressure points to form larger plaques. Recently, two consecutive studies identified the causative gene for PPPK1 as AAGAB (2, 3), located on chromosome 15q23, a locus to which the causal gene for PPPK1 was previously mapped (4). This article is protected by copyright. All rights reserved.

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DO - 10.1111/bjd.12927

M3 - Letter

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VL - 171

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EP - 436

JO - British Journal of Dermatology

JF - British Journal of Dermatology

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New and recurrent AAGAB mutations in punctate palmoplantar keratoderma

Abstract

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Projects

Dermatology and Genetic Medicine (Strategic Grant) (Joint with Kings College London)

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