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

Details

Serval ID
serval:BIB_9EFC7B46D807
Type
Article: article from journal or magazin.
Collection
Publications
Title
Lamellar ichthyosis is genetically heterogeneous--cases with normal keratinocyte transglutaminase
Journal
Journal of Investigative Dermatology
Author(s)
Huber  M., Rettler  I., Bernasconi  K., Wyss  M., Hohl  D.
ISSN
0022-202X (Print)
Publication state
Published
Issued date
11/1995
Volume
105
Number
5
Pages
653-4
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Nov
Abstract
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.
Keywords
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
Yes
Create date
25/01/2008 17:36
Last modification date
08/05/2019 22:50
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