Self-Healing Collodion Baby: A Dynamic Phenotype Explained by a Particular Transglutaminase-1 Mutation

Michael Raghunath, Hans Christian Hennies, Bijan Ahvazi, Melanie Vogel, Andre Reis, Peter M. Steinert, Heiko Traupe

Research output: Contribution to journalArticle

89 Citations (Scopus)

Abstract

Spontaneous healing with no or only very mild ichthyosis distinguishes the "self-healing collodion baby" from other congenital ichthyoses. In two self-healing collodion baby siblings with markedly diminished epidermal transglutaminase 1 activity we found the compound heterozygous transglutaminase 1 mutations G278R and D490G. Molecular modeling and biochemical assays of mutant proteins under elevated hydrostatic pressure suggest significantly reduced activity in G278R and a chelation of water molecules in D490G that locks the mutated enzyme in an inactive trans conformation in utero. After birth these water molecules are removed and the enzyme is predicted to isomerize back to a partially active cis form, explaining the dramatic improvement of this skin condition.

Original languageEnglish
Pages (from-to)224-228
Number of pages5
JournalJournal of Investigative Dermatology
Volume120
Issue number2
DOIs
Publication statusPublished - Feb 2003
Externally publishedYes

Fingerprint Dive into the research topics of 'Self-Healing Collodion Baby: A Dynamic Phenotype Explained by a Particular Transglutaminase-1 Mutation'. Together they form a unique fingerprint.

Cite this