Article
Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.
The Journal of clinical investigation - 3 Apr 2017
Ralser Damian J, Basmanav F Buket Ü, Tafazzoli Aylar, Wititsuwannakul Jade, Delker Sarah, Danda Sumita, Thiele Holger, Wolf Sabrina, Busch Michélle, Pulimood Susanne A, Altmüller Janine, Nürnberg Peter, Lacombe Didier, Hillen Uwe, Wenzel Jörg, Frank Jorge, Odermatt Benjamin, Betz Regina C
Abstract excerpt
Dowling-Degos disease (DDD) is an autosomal-dominant disorder of skin pigmentation associated with mutations in keratin 5 (KRT5), protein O-fucosyltransferase 1 (POFUT1), or protein O-glucosyltransferase 1 (POGLUT1). Here, we have identified 6 heterozygous truncating mutations in PSENEN, encoding presenilin enhancer protein 2, in 6 unrelated patients and families with DDD in whom mutations in KRT5, POFUT1, and...
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