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.
Highlights
In family 1 the mother presented, aged 75 years, with a 40-year history of reticulate hyperpigmented scaling plaques on the neck, lateral proximal arms, proximal legs and popliteal fossae (Fig. 1a, b)
A heterozygous missense mutation was identified in POGLUT1, p.Cys286Tyr; c.857G>A, in both affected individuals (Fig. 2c, d)
We identified one previously reported nonsense mutation, p.Arg218*, and two previously unreported missense mutations, p.Gly170Glu and p.Cys286Tyr
Summary
In family 1 the mother presented, aged 75 years, with a 40-year history of reticulate hyperpigmented scaling plaques on the neck, lateral proximal arms, proximal legs and popliteal fossae (Fig. 1a, b). Harvard.edu/pph2/), predict this to be a disease-causing variant. SNP/), NHLBI Exome Variant Server (http://evs.gs.washington.edu/EVS/) or ExAC (http://exac.broadinstitute.org/) databases. These started on her legs spread onto her forearms with a few lesions on her trunk (Fig. 1g–j).
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