Molecular analysis of a series of israeli families with comèl-netherton syndrome

Shirli Israeli, Ofer Sarig, Ben Zion Garty, Margarita Indelman, Reuven Bergman, Eli Sprecher, Ilan Goldberg*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Background: Comèl-Netherton syndrome is a rare congenital autosomal recessive disorder characterized by congenital ichthyosis, hair shaft abnormalities and atopic diathesis. It is caused by mutations in SPINK5, which encodes the serine protease inhibitor LEKTI. Objectives: To delineate the spectrum of mutations carried by a series of Israeli patients in an attempt to establish an effective diagnostic strategy for this disease in Israel. Methods: Mutations were identified by direct sequencing of the entire coding sequence of SPINK5 and confirmed using polymerase chain reaction-restriction fragment length polymorphism. Results: Three mutations were identified in seven families, of which two were novel. All mutations were predicted to result in premature termination of protein translation. Conclusions: This report presents the first case series of patients affected with Comèl-Netherton syndrome in Israel and suggests that some mutations reoccur in a substantial portion of cases in our country, a fact that should be taken into consideration when designing molecular analysis in new cases.

Original languageEnglish
Pages (from-to)183-188
Number of pages6
Issue number2
StatePublished - Mar 2014


  • Comèl-Netherton syndrome
  • Hair
  • Ichthyosis
  • Linkage analysis
  • Serine proteinase inhibitors


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