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

Dermatology. 2014;228(2):183-8. doi: 10.1159/000357560. Epub 2014 Feb 27.

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.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Dermatitis, Atopic / genetics
  • Family*
  • Frameshift Mutation
  • Genetic Markers / genetics
  • Hair / abnormalities
  • Humans
  • Ichthyosis / genetics
  • Infant
  • Israel
  • Jews / genetics
  • Mutation*
  • Netherton Syndrome / diagnosis
  • Netherton Syndrome / genetics*
  • Pedigree
  • Protein Biosynthesis / genetics
  • Proteinase Inhibitory Proteins, Secretory / genetics*
  • Serine Peptidase Inhibitor Kazal-Type 5
  • Serine Proteinase Inhibitors / genetics
  • Severity of Illness Index

Substances

  • Genetic Markers
  • Proteinase Inhibitory Proteins, Secretory
  • SPINK5 protein, human
  • Serine Peptidase Inhibitor Kazal-Type 5
  • Serine Proteinase Inhibitors