Peeling skin syndrome: genetic defects in late terminal differentiation of the epidermis

Bowden, Paul Edward 2011. Peeling skin syndrome: genetic defects in late terminal differentiation of the epidermis. Journal of Investigative Dermatology 131 (3) , pp. 561-564. 10.1038/jid.2010.434

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Abstract

In this issue, Israeli and colleagues confirm that homozygous mutations in corneodesmosin (CDSN) cause type B peeling skin syndrome (PSS), an autosomal recessive skin disorder. The deletion mutation described resulted in a frameshift, producing a downstream premature stop codon and early truncation of the protein. The recently described CDSN nonsense mutation in another PSS family also resulted in protein truncation and nonsense-mediated mRNA decay. Type B generalized PSS can now be clearly distinguished from acral PSS, caused by mutations in transglutaminase 5. This directly affects cornified envelope cross-linking rather than corneodesmosome adherence. These observations provide new insight into the molecular defects underlying two closely related forms of PSS.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > RL Dermatology
Publisher:	Society of Investigative Dermatology
ISSN:	0022-202X
Last Modified:	12 Jun 2019 02:22
URI:	https://orca.cardiff.ac.uk/id/eprint/29974

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