Transglutaminase 1 Gene mutations in Italian patients with autosomal recessive lamellar ichthyosis

Gabriella Esposito, Luigi Auricchio, Giuseppe Rescigno, Francesco Paparo, Michela Rinaldi, Francesco Salvatore

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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.

Original languageEnglish
Pages (from-to)809-812
Number of pages4
JournalJournal of Investigative Dermatology
Issue number5
Publication statusPublished - 2001


  • Linkage analysis
  • Mis-sense mutations
  • Single strand conformational polymorphism
  • Transglutaminase 1 activity

ASJC Scopus subject areas

  • Dermatology


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