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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Abstract

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
Volume176
Issue number1
Early online date1 Aug 2016
DOIs
Publication statusPublished - Jan 2017

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Glucosyltransferases
Genetic Databases
Mutation
Proteins
Keratin-5
Exome
Dowling-Degos Disease

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Wilson, N. J. ; Cole, C. ; Kroboth, K. ; Hunter, W. N. ; Mann, J. A. ; Irwin McLean, W. H. ; Kernland Lang, K. ; Beltraminelli, H. ; Sabroe, R. A. ; Tiffin, N. ; Sobey, G. J. ; Borradori, L. ; Simpson, E. ; Smith, F. J. D. / Mutations in POGLUT1 in Galli-Galli/Dowling Degos-disease. In: British Journal of Dermatology. 2017 ; Vol. 176, No. 1. pp. 270-274.
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title = "Mutations in POGLUT1 in Galli-Galli/Dowling Degos-disease",
abstract = "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.",
author = "Wilson, {N. J.} and C. Cole and K. Kroboth and Hunter, {W. N.} and Mann, {J. A.} and {Irwin McLean}, {W. H.} and {Kernland Lang}, K. and H. Beltraminelli and Sabroe, {R. A.} and N. Tiffin and Sobey, {G. J.} and L. Borradori and E. Simpson and Smith, {F. J. D.}",
note = "F.J.D.S. and N.J.W. were supported by a grant from the Pachyonychia Congenita Project (to F.J.D.S.; www.pachyonychia.org). The Centre for Dermatology and Genetic Medicine at the University of Dundee is supported by a Wellcome Trust Strategic Award (098439/Z/12/Z to W.H.I.M.).",
year = "2017",
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Wilson, NJ, Cole, C, Kroboth, K, Hunter, WN, Mann, JA, Irwin McLean, WH, Kernland Lang, K, Beltraminelli, H, Sabroe, RA, Tiffin, N, Sobey, GJ, Borradori, L, Simpson, E & Smith, FJD 2017, 'Mutations in POGLUT1 in Galli-Galli/Dowling Degos-disease', British Journal of Dermatology, vol. 176, no. 1, pp. 270-274. https://doi.org/10.1111/bjd.14914

Mutations in POGLUT1 in Galli-Galli/Dowling Degos-disease. / Wilson, N. J.; Cole, C.; Kroboth, K.; Hunter, W. N.; Mann, J. A.; Irwin McLean, W. H.; Kernland Lang, K.; Beltraminelli, H.; Sabroe, R. A.; Tiffin, N.; Sobey, G. J.; Borradori, L.; Simpson, E.; Smith, F. J. D. (Lead / Corresponding author).

In: British Journal of Dermatology, Vol. 176, No. 1, 01.2017, p. 270-274.

Research output: Contribution to journalLetter

TY - JOUR

T1 - Mutations in POGLUT1 in Galli-Galli/Dowling Degos-disease

AU - Wilson, N. J.

AU - Cole, C.

AU - Kroboth, K.

AU - Hunter, W. N.

AU - Mann, J. A.

AU - Irwin McLean, W. H.

AU - Kernland Lang, K.

AU - Beltraminelli, H.

AU - Sabroe, R. A.

AU - Tiffin, N.

AU - Sobey, G. J.

AU - Borradori, L.

AU - Simpson, E.

AU - Smith, F. J. D.

N1 - F.J.D.S. and N.J.W. were supported by a grant from the Pachyonychia Congenita Project (to F.J.D.S.; www.pachyonychia.org). The Centre for Dermatology and Genetic Medicine at the University of Dundee is supported by a Wellcome Trust Strategic Award (098439/Z/12/Z to W.H.I.M.).

PY - 2017/1

Y1 - 2017/1

N2 - 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.

AB - 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.

U2 - 10.1111/bjd.14914

DO - 10.1111/bjd.14914

M3 - Letter

C2 - 27479915

VL - 176

SP - 270

EP - 274

JO - British Journal of Dermatology

JF - British Journal of Dermatology

SN - 0007-0963

IS - 1

ER -