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 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.
Huber
M
M
Department of Dermatology, Centre Hospitalier Universitaire Vandois (CHUV), Hôpital de Beaumont, Lausanne, Switzerland.
Rettler
I
I
Bernasconi
K
K
Frenk
E
E
Lavrijsen
S P
SP
Ponec
M
M
Bon
A
A
Lautenschlager
S
S
Schorderet
D F
DF
Hohl
D
D
D001483:Base Sequence; D002462:Cell Membrane / Q000378:metabolism; D002478:Cells, Cultured; D003062:Codon; D005260:Female; D017353:Gene Deletion; D008040:Genetic Linkage; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000201:enzymology / Q000235:genetics*; D007438:Introns; D015603:Keratinocytes / Q000201:enzymology* / Q000648:ultrastructure; D008297:Male; D008565:Membrane Proteins / Q000378:metabolism; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D017354:Point Mutation; D011498:Protein Precursors / Q000378:metabolism; D011503:Transglutaminases / Q000235:genetics* / Q000378:metabolism
D003062:Codon; D008565:Membrane Proteins; D011498:Protein Precursors; C064554:loricrin; C032253:involucrin; D011503:Transglutaminases