Mutations in POGLUT1 in Galli-Galli/Dowling Degos-disease

N. J. Wilson, C. Cole, K. Kroboth, W. N. Hunter, J. A. Mann, W. H. Irwin McLean, K. Kernland Lang, H. Beltraminelli, R. A. Sabroe, N. Tiffin, G. J. Sobey, L. Borradori, E. Simpson, F. J. D. Smith (Lead / Corresponding author)

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The group of reticulate pigmentary disorders includes the rare autosomal dominant Dowling-Degos disease (DDD) and Galli-Galli disease (GGD;.OMIM 179850, OMIM 615327, OMIM 615696). (1) In light of substantial clinical, histological and mutational overlap between GGD and DDD they are considered to belong to the same entity. (2-3) Mutations in KRT5 (encoding keratin 5) have been associated with GGD/DDD since 2006. (2-5) With the development of whole exome sequencing (WES), mutations in POFUT1 (encoding protein O-fucosyltransferase 1) (6-7) and POGLUT1 (encoding protein O-glucosyltransferase 1) (8) have been shown to underlie some cases of GGD/DDD. We report mutations in POGLUT1 in 3 families of European ancestry. This article is protected by copyright. All rights reserved.

Original languageEnglish
Pages (from-to)270-274
Number of pages5
JournalBritish Journal of Dermatology
Issue number1
Early online date1 Aug 2016
Publication statusPublished - Jan 2017


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