Mutations of Keratinocyte Transglutaminase in Lamellar Ichthyosis

Lamellar ichthyosis is a severe congenital skin disorder characterized by generalized large scales and variable redness. Affected individuals in three families exhibited drastically reduced keratinocyte transglutaminase (TGK) activity. In two of these families, expression of TGK transcripts was dimi...

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Bibliographic Details
Published in:Science (American Association for the Advancement of Science) 1995-01, Vol.267 (5197), p.525-528
Main Authors: Huber, Marcel, Rettler, Irmingard, Bernasconi, Katja, Frenk, Edgar, Sjan P. M. Lavrijsen, Ponec, Maria, Bon, Aita, Lautenschlager, Stefan, Schorderet, Daniel F., Hohl, Daniel
Format: Article
Language:English
Subjects:
Alleles
Base Sequence
Biological and medical sciences
Cell Membrane - metabolism
Cells, Cultured
Codon
Complementary DNA
Dermatology
DNA
DNA probes
Exons
Female
Gene Deletion
gene expression
Genetic aspects
Genetic Linkage
Genetic mutation
Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue
Heterozygote
Homozygote
Humans
Ichthyosis
Ichthyosis, Lamellar - enzymology
Ichthyosis, Lamellar - genetics
Introns
Keratinocytes
Keratinocytes - enzymology
Keratinocytes - ultrastructure
Keratosis
Lamellar ichthyosis
Male
man
Medical sciences
Membrane Proteins - metabolism
Molecular Sequence Data
Mutation
Pedigree
Physiological aspects
Point Mutation
Polymerase chain reaction
Protein Precursors - metabolism
skin diseases
transglutaminase
Transglutaminases - genetics
Transglutaminases - metabolism
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Summary:Lamellar ichthyosis is a severe congenital skin disorder characterized by generalized large scales and variable redness. Affected individuals in three families exhibited drastically reduced keratinocyte transglutaminase (TGK) activity. In two of these families, expression of TGK transcripts was diminished or abnormal and no TGK protein was detected. Homozygous or compound heterozygous mutations of the TGK gene were identified in all families. These data suggest that defects in TGK cause lamellar ichthyosis and that intact cross-linkage of cornified cell envelopes is required for epidermal tissue homeostasis.
ISSN:0036-8075
1095-9203
DOI:10.1126/science.7824952