title: 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.
  
  
  OBJECTIVE
  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.
authors.affiliation: Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors.forename: Shirli
authors.initials: S
authors.lastname: Israeli
authors.forename: Ofer
authors.initials: O
authors.lastname: Sarig
authors.forename: Ben Zion
authors.initials: BZ
authors.lastname: Garty
authors.forename: Margarita
authors.initials: M
authors.lastname: Indelman
authors.forename: Reuven
authors.initials: R
authors.lastname: Bergman
authors.forename: Eli
authors.initials: E
authors.lastname: Sprecher
authors.forename: Ilan
authors.initials: I
authors.lastname: Goldberg
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003876:Dermatitis, Atopic / Q000235:genetics; D005190:Family; D016368:Frameshift Mutation; D005819:Genetic Markers / Q000235:genetics; D006197:Hair / Q000002:abnormalities; D006801:Humans; D007057:Ichthyosis / Q000235:genetics; D007223:Infant; D007557:Israel; D007585:Jews / Q000235:genetics; D009154:Mutation; D056770:Netherton Syndrome / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D014176:Protein Biosynthesis / Q000235:genetics; D053491:Proteinase Inhibitory Proteins, Secretory / Q000235:genetics*; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D015842:Serine Proteinase Inhibitors / Q000235:genetics; D012720:Severity of Illness Index
chemical_list: D005819:Genetic Markers; D053491:Proteinase Inhibitory Proteins, Secretory; C120650:SPINK5 protein, human; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D015842:Serine Proteinase Inhibitors