Article
Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations.
The Journal of investigative dermatology - 1 Mar 2012
Lacroix Matthieu, Lacaze-Buzy Laetitia, Furio Laetitia, Tron Elodie, Valari Manthoula, Van der Wier Gerda, Bodemer Christine, Bygum Anette, Bursztejn Anne-Claire, Gaitanis George, Paradisi Mauro, Stratigos Alexander, Weibel Lisa, Deraison Céline, Hovnanian Alain
Abstract excerpt
Netherton syndrome (NS) is a severe skin disease caused by loss-of-function mutations in SPINK5 (serine protease inhibitor Kazal-type 5) encoding the serine protease inhibitor LEKTI (lympho-epithelial Kazal type-related inhibitor). Here, we disclose new SPINK5 defects in 12 patients, who presented a clinical triad suggestive of NS with variations in inter- and intra-familial disease expression. We identified a...
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