Lamellar ichthyosis is genetically heterogeneous--cases with normal keratinocyte transglutaminase

Détails

ID Serval
serval:BIB_9EFC7B46D807
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Lamellar ichthyosis is genetically heterogeneous--cases with normal keratinocyte transglutaminase
Périodique
Journal of Investigative Dermatology
Auteur(s)
Huber  M., Rettler  I., Bernasconi  K., Wyss  M., Hohl  D.
ISSN
0022-202X (Print)
Statut éditorial
Publié
Date de publication
11/1995
Volume
105
Numéro
5
Pages
653-4
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Nov
Résumé
We recently identified mutations of the keratinocyte transglutaminase gene as a cause of lamellar ichthyosis. In this study we analyzed two sporadic cases of lamellar ichthyosis. Transglutaminase activity measured in membrane extracts from cultured differentiating keratinocytes was within the range observed in normal individuals. Western blot and Northern blot analysis revealed normal size and quantities of keratinocyte transglutaminase protein and mRNA. Sequencing of the 15 exons and their flanking regions demonstrated no deviation from the published sequence except for two silent polymorphisms. These results exclude mutations of keratinocyte transglutaminase as a cause for lamellar ichthyosis in these patients, indicating that lamellar ichthyosis is a genetically heterogeneous disorder.
Mots-clé
Genetic Heterogeneity Humans Ichthyosis, Lamellar/*genetics Infant, Newborn Keratinocytes/*enzymology Mutation Pedigree RNA, Messenger/analysis Reference Values Transglutaminases/genetics/*metabolism
Pubmed
Web of science
Open Access
Oui
Création de la notice
25/01/2008 17:36
Dernière modification de la notice
08/05/2019 22:50
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