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

doi:10.1111/bjd.14914

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 language	English
Pages (from-to)	270-274
Number of pages	5
Journal	British Journal of Dermatology
Volume	176
Issue number	1
Early online date	1 Aug 2016
DOIs	https://doi.org/10.1111/bjd.14914
Publication status	Published - Jan 2017

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© 2016 The Authors. British Journal of Dermatology published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
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@article{9094f2df14db420bb7176e146760a6e3,

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",

month = jan,

doi = "10.1111/bjd.14914",

language = "English",

volume = "176",

pages = "270--274",

journal = "British Journal of Dermatology",

issn = "0007-0963",

publisher = "Oxford University Press",

number = "1",

}

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

SN - 0007-0963

VL - 176

SP - 270

EP - 274

JO - British Journal of Dermatology

JF - British Journal of Dermatology

IS - 1

ER -

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

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