Molecular analysis of a series of Israeli families with Comèl-Netherton syndrome.

ABSTRACT

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.