A. Mallet, M. Kypriotou, K. George, E. Leclerc, D. Rivero, J. Mazereeuw-Hautier, G. Serre, M. Huber, N. Jonca and D. Hohl Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B British Journal of Dermatology 169
What's already known about this topic?
- Peeling skin disease (PSD) is a generalized inflammatory genodermatosis.
- PSD is caused by autosomal recessive nonsense mutations in the human corneodesmosin gene (CDSN), which lead to total corneodesmosin deficiency.
What does this study add?
- This study reveals a new nonsense mutation in the human CDSN gene, which leads to a truncated form of corneodesmosin and is responsible for PSD.
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