title: Transglutaminase 1 gene mutations in Italian patients with autosomal recessive lamellar ichthyosis.
abstract: We analyzed the transglutaminase 1 gene locus in patients from six unrelated Italian families affected by autosomal recessive lamellar ichthyosis. In two families we identified a novel mutation (E520G) in the gene coding region, a previously reported splicing mutation (A3447G), and the mis-sense mutations S272P and V518M. The latter mutation, hitherto considered disease causing, was found to be a simple polymorphism. Linkage to transglutaminase 1 gene was excluded in two of the other four families examined. Single strand conformational polymorphism analysis of the transglutaminase 1 gene in the remaining two families did not reveal any alteration in the coding region. This finding confirms the genetic heterogeneity of the disease.
authors.affiliation: Dipartimento di Biochimica e Biotecnologie Mediche, CEINGE-Biotecnologie Avanzate, Ateneo "Federico II", Napoli, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Esposito
authors.forename: L
authors.initials: L
authors.lastname: Auricchio
authors.forename: G
authors.initials: G
authors.lastname: Rescigno
authors.forename: F
authors.initials: F
authors.lastname: Paparo
authors.forename: M
authors.initials: M
authors.lastname: Rinaldi
authors.forename: F
authors.initials: F
authors.lastname: Salvatore
mesh_terms: D004274:DNA, Recombinant; D005260:Female; D005808:Genes, Recessive; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D007558:Italy; D008297:Male; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree; D011110:Polymorphism, Genetic; D012867:Skin / Q000201:enzymology; D011503:Transglutaminases / Q000235:genetics* / Q000378:metabolism
chemical_list: D004274:DNA, Recombinant; D011503:Transglutaminases; C105804:transglutaminase 1