A loss-of-function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa.
de Oliveira ASLE, de Siqueira RC, Nait-Meddour C, Tricarico PM, Moura R, Agrelli A, d'Adamo AP, Jamain S, Crovella S, de Fátima Medeiros Brito M, Boniotto M, Brandão LAC.
de Oliveira ASLE, et al.
Exp Dermatol. 2023 Nov;32(11):1935-1945. doi: 10.1111/exd.14919. Epub 2023 Sep 4.
Exp Dermatol. 2023.
PMID: 37665193
Mutations in KRT5, POGLUT-1 and POFUT-1 genes have been associated with DDD, and loss-of-function mutations in PSENEN, a subunit of the gamma-secretase complex, were found in patients presenting with DDD or DDD comorbid with hidradenitis suppurativa (HS). ...
Mutations in KRT5, POGLUT-1 and POFUT-1 genes have been associated with DDD, and loss-of-function mutations in PSENEN, a subunit of t …