Article
Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.
American journal of human genetics - 2 Jan 2014
Basmanav F Buket, Oprisoreanu Ana-Maria, Pasternack Sandra M, Thiele Holger, Fritz Günter, Wenzel Jörg, Größer Leopold, Wehner Maria, Wolf Sabrina, Fagerberg Christina, Bygum Anette, Altmüller Janine, Rütten Arno, Parmentier Laurent, El Shabrawi-Caelen Laila, Hafner Christian, Nürnberg Peter, Kruse Roland, Schoch Susanne, Hanneken Sandra, Betz Regina C
Abstract excerpt
Dowling-Degos disease (DDD) is an autosomal-dominant genodermatosis characterized by progressive and disfiguring reticulate hyperpigmentation. We previously identified loss-of-function mutations in KRT5 but were only able to detect pathogenic mutations in fewer than half of our subjects. To identify additional causes of DDD, we performed exome sequencing in five unrelated affected individuals without mutations in...
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