Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome

The study focused on Comèl-Netherton syndrome in Israeli families, identifying three mutations in the SPINK5 gene among seven families, with two being novel. These mutations were predicted to cause premature termination of protein translation. The findings highlighted that certain mutations were recurrent in the Israeli population, suggesting the need for tailored molecular analysis strategies for diagnosing new cases in Israel.